Taosheng Huang MD, PhD
Taosheng Huang
MD, PhD
Division Chief of Human Genetics, University at Buffalo
Jacobs School of Medicine & Biomedical Sciences
Specialty/Research Focus
Clinical Biochemical Genetics; Clinical Genetics; Clinical Molecular Genetics; Genomics and proteomics; Inherited Metabolic Disorders; Molecular and Cellular Biology; Molecular Basis of Disease; Molecular genetics; Pediatric Genetics; Pediatrics; Regulation of metabolism
Professional Summary:
I am a physician-scientist with substantial experience in translational research and mitochondrial medicine. My focus is on the integration of research, molecular testing and clinical service to improve the care of patients. Recently, I have been recruited to be the Chief of Genetics for Pediatrics at SUNY Buffalo, Director of Genetics & Metabolism at Oishei Children’s Hospital and Program Director of Clinical Cancer Genetics at Great Lakes Cancer Center. Previously, I served for eight years as Professor in Human Genetics, Director of the Program of Mitochondrial Medicine and Director of the Molecular Diagnostic laboratory at Cincinnati Children‘s Hospital Medical Center. My goal is to advance both UB and Oishei Children’s Hospital by bringing my cutting-edge research program and personnel from my previous institute, along with my 25 years of experience in clinical genetics. In addition, as the Chief of Genetics, I will help recruit additional experts in the field and attract new trainees to build up the research and clinical genetics environment at UB.
Clinically, I am interested in the genetics of mitochondrial diseases, genetic syndromes with congenital cardiac defects, newborn screening, and prenatal screening and diagnosis. I am also actively committed to the training of junior faculty, clinical and research fellows, a commitment that I will continue to follow at UB. Many of my trainees have become independent investigators and/or serve as lab directors in molecular diagnostic labs and cytogenetic labs.
My primary research interest is in ground-breaking translational research into the basis of mitochondrial disease. My group has published over 120 articles on a variety of topics, ranging from genetic syndromes to molecular mechanisms. Our research on mitochondrial replacement therapy in collaboration with Dr. John Zhang was ranked among the top 10 stories in 2016 by Nature and Science. Our discovery on paternal mtDNA was also ranked in the top 10 publications from 2019 by Nature. We plan to continue our research into novel disease-causing genes related to mitochondrial dysfunction, studying their pathogenic mechanisms and developing therapeutic treatments. Recently, we have shown that gene therapy based on the adeno-associated virus system can dramatically rescue the neurodegenerative phenotype in several of our mouse models of mitochondrial disease. Given these exciting results, we hope to eventually conduct clinical trials that will help translate these approaches into viable bedside treatments. In the long term, my vision is to apply these discoveries from rare, primary mitochondrial disorders to common conditions, such as aging, neurodegeneration and diabetes.
Education and Training:
- PhD, Biomedical Science, Mount Sinai Medical School (1991)
- MD, Fujian Medical College (1983)
Employment:
- Division Chief of Human Genetics, Pediatrics, University at Buffalo (2020-present)
- Medical Director of Genetics & Metabolism, Oishei Children’s Hospital (2020-present)
- Program Director of Clinical Cancer Genetics, Great Lakes Cancer Center (2020-present)
- Guest Professor, Nanchang University, China (2019-present)
- Director, Molecular Diagnostic Laboratory, Division of Human Genetics, Cincinnati Children’s Hospital Medical Center (2016–2020)
- Professor, Division of Human Genetics, Cincinnati Children’s Hospital Medical Center (2012–2020)
- Director, Program of Mitochondrial Medicine, Division of Human Genetics, Cincinnati Children’s Hospital Medical Center (2012–2020)
- Professor, Nanchang University, China (2017–2019)
- Associate Director, Molecular Diagnostic Laboratory, Division of Human Genetics, Cincinnati Children’s Hospital Medical Center (2012–2016)
- Honorable Professor, Peking Union Medical College, China (2011–2016)
- Staff physician, Department of Pediatrics and Genetics, Orange County Children’s Hospital (2009–2012)
- Associate Professor (joint appointment), Department of Pathology, Department of Pathology, University of California, Irvine, College of Medicine (2008–2012)
- Associate Professor (joint appointment), Department of Ophthalmology, Department of Ophthalmology, University of California, Irvine, College of Medicine (2008–2012)
- Associate Professor (Tenured), Attending Physician in Human Genetics/Metabolism, Departments of Pediatrics and Genetics, University of California, Irvine, College of Medicine (2008–2012)
- Associate Professor (joint appointment), Department of Developmental Biology, Department of Developmental Biology, University of California, Irvine, School of Biological Science (2008–2012)
- Consultant physician, Department of Pediatrics/Genetics, Long Beach Memorial Hospital (2007–2012)
- Director, MitoMed Molecular Diagnostic Laboratory, University of California, Irvine, College of Medicine (2004–2012)
- Medical staff, Long Beach Memorial Medical Center (2004–2012)
- Attending Physician, Departments of Pediatrics and Genetics, University of California, Irvine, College of Medicine (2001–2012)
- Director of Cardiovascular Genetic Clinic, Department of Pediatrics and Genetics, University of California, Irvine, College of Medicine (2001–2012)
- Medical Director and Consultant, Ambry Genetics (2008–2010)
- Assistant Professor, Department of Pathology, University of California, Irvine, College of Medicine (2004–2008)
- Assistant Professor (Tenure track), Attending physician in Human Genetics and Metabolism, Department of Pediatrics and Genetics, University of California, Irvine, College of Medicine (2001–2008)
- Assistant Professor, Department of Developmental Biology, University of California, Irvine, School of Biological Science (2001–2008)
- Instructor in Genetics, Harvard Medical School (1999–2001)
- Attending Physician and Assistant in Medicine, Boston Children’s Hospital, Harvard Medical School (1999–2001)
Awards and Honors:
- SCAPE Achievement in Discovery Award (2017)
- University of California, Irvine College of Medicine: Junior Physician-Scientist Award (2004)
- University of California, Irvine College of Medicine: Second Place Research Award (2003)
- National Health Institute: Clinical Associate Physician Award (1999)
- Boston Children’s Hospital/Harvard Medical School: Farley Fellowship (1998)
- Georgetown University‘s Children‘s Medical Center: Resident Research Award (1996)
- National Health Institute/Harvard Medical School: Fellowship Training Grant (1996)
- Society of Chinese Biomedical Scientists in America: Third Place SCBA Poster Competition (1990)
- American Society of Virology: Predoctoral Travel Fellowship (1989)
Research Expertise:
- Clinical Genetics
- Human Genetics
- Metabolism
- Mitochondrial Medicine
- Pathogenic Mechanisms
- Translational Research
Grants and Sponsored Research:
- April 2019–March 2024
Molecular Mechanism of Biallelic Mutations of FDXR Causing Novel Mitochondriopathy with Optic Atrophy
NIH-National Eye Institute
Role: Principal Investigator
$1,250,000 - April 2018–March 2023
Exploration of the genetic basis and molecular mechanism for paternal mitochondrial DNA inheritance.
NIH-National Institute of Child Health & Development
Role: Principal Investigator
$1,200,000 - April 2019–March 2021
Causal Role of Mitochondrial Dysfunctions in Aging by Analyzing an Epigenetic Clock in Patients with Mitochondrial DNA Mutations
NIH-National Institute of Aging
Role: Principal Investigator
$250,000 - September 2012–August 2019
Cincinnati Children’s Hospital Research Foundation Grant.
Cincinnati Children’s Hospital Research Foundation
Role: Principal Investigator
$2,000,000 - April 2016–March 2018
Molecular pathogenesis of SLC25A46 mutations in optic atrophy, axonal neuropathy, and cerebellar neurodegeneration
Role: Principal Investigator
$500,000 - April 2008–March 2014
Genetics studies of optic atrophy
NIH-National Eye Institute
Role: Principal Investigator
$1,000,000 - January 2011–January 2013
Genetic and iPS Cell studies.
Role: Principal Investigator
$150,000 - July 2005–December 2011
Studies of the TBX5 targets
Larry & Helen Hoag Foundation
Role: Principal Investigator
$300,000 - March 2008–June 2011
The role of TBX3 in Human Embryos Stem Cell Differentiation Minority Supplement for Taraneh Esmailpour
NIH-National Cancer Institute
Role: Principal Investigator
$250,000 - July 2007–June 2011
Intracellular Network of TBX3 in breast cancer
NIH-National Cancer Institute
Role: Principal Investigator
$750,000 - April 2006–March 2008
Transgenic TBX3 Animal Model to study breast cancer
Susan Komen Breast Cancer Foundation
Role: Principal Investigator
$240,000 - July 2001–June 2004
Faculty Development (Howard Hughes)
Howard Hughes Medical Research Program
Role: Principal Investigator
$180,000 - April 1999–March 2004
Clinical Associate Physician Award (K23): The Molecular Basis of Phenotypic Variability in Holt-Oram Syndrome.
NIH
Role: Co-Investigator
$650,000
Journal Articles:
- Yu J, Liang X, Ji Y, Ai C, Liu J, Zhu L, Nie Z, Jin X, Wang C, Zhang J, Zhao F, Mei S, Zhao X, Zhou X, Zhang M, Wang M, Huang T, Jiang P, Guan MX. PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy. J Clin Invest. 2020; 130(9).
- Zou W, Slone J, Cao Y, Huang T. Mitochondria and Their Role in Human Reproduction. DNA Cell Biol. 2020; 39(8).
- Slone JD, Yang L, Peng Y, Queme LF, Harris B, Rizzo SJS, Green T, Ryan JL, Jankowski MP, Reinholdt LG, Huang T. Integrated analysis of the molecular pathogenesis of FDXR-associated disease. Cell Death Dis. 2020; 11(6).
- Yang L, Slone J, Zou W, Queme LF, Jankowski MP, Yin F, Huang T. Systemic delivery of AAV-Fdxr rescues the phenotypes of mitochondrial disorders in Fdxr mutant mice. Molecular Therapy - Methods & Clinical Development. 2020; 18.
- Slone J, Huang T. The special considerations of gene therapy for mitochondrial diseases. NPJ Genom Med. 2020; 5.
- Yang L, Slone J, Li Z, Lou X, Hu YC, Queme LF, Jankowski MP, Huang T. Systemic administration of AAV-Slc25a46 mitigates mitochondrial neuropathy in Slc25a46-/- mice. Hum Mol Genet. 2020; 29(4).
- Huang T, Li P. Principles guiding the development of clinical practice guidelines for medical genetics and genomics specialty.. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020; 37.
- Li H, Slone J, Huang T. The role of mitochondrial-related nuclear genes in age-related common disease. Mitochondrion. 2020; 53.
- Zhang Y, Kaynak A, Huang T, Esfandiari L. A rapid bioanalytical tool for detection of sequence-specific circular DNA and mitochondrial DNA point mutations. Anal Bioanal Chem. 2019; 411(10).
- Ji Y, Zhang J, Yu J, Wang Y, Lu Y, Liang M, Li Q, Jin X, Wei Y, Meng F, Gao Y, Cang X, Tong Y, Liu X, Zhang M, Jiang P, Zhu T, Mo JQ, Huang T, Jiang P, Guan MX. Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy. Hum Mol Genet. 2019; 28(9).
- Sun G, Mathur A, Zou F, Husami A, Denton J, Zhang K, Huang T, Valencia CA. Two Novel Mutations in SALL1 Cause Townes-Brocks-Like Syndrome: New Findings from an Old Case.. Genet Mol Med. 2019; 1.
- Jiang Y, Huang T. Foreign experience the history and current status of medical genetics and genomics system in the United States.. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019; 36.
- Li H, Slone J, Fei L, Huang T. Mitochondrial DNA Variants and Common Diseases: A Mathematical Model for the Diversity of Age-Related mtDNA Mutations. Cells. 2019; 8(6).
- Luo S, Valencia CA, Zhang J, Lee NC, Slone J, Gui B, Wang X, Li Z, Dell S, Brown J, Chen SM, Chien YH, Hwu WL, Fan PC, Wong LJ, Atwal PS, Huang T. Biparental Inheritance of Mitochondrial DNA in Humans. Proc Natl Acad Sci U S A. 2018; 115(51).
- Slone J, Peng Y, Chamberlin A, Harris B, Kaylor J, McDonald MT, Lemmon M, El-Dairi MA, Tchapyjnikov D, Gonzalez-Krellwitz LA, Sellars EA, McConkie-Rosell A, Reinholdt LG, Huang T. Biallelic mutations in FDXR cause neurodegeneration associated with inflammation. J Hum Genet. 2018; 63(12).
- Hayashi Y, Zhang Y, Yokota A, Yan X, Liu J, Choi K, Li B, Sashida G, Peng Y, Xu Z, Huang R, Zhang L, Freudiger GM, Wang J, Dong Y, Zhou Y, Wang J, Wu L, Bu J, Chen A, Zhao X, Sun X, Chetal K, Olsson A, Watanabe M, Romick-Rosendale LE, Harada H, Shih LY, Tse W, Bridges JP, Caligiuri MA, Huang T, Zheng Y, Witte DP, Wang QF, Qu CK, Salomonis N, Grimes HL, Nimer SD, Xiao Z, Huang G. Pathobiological Pseudohypoxia as a Putative Mechanism Underlying Myelodysplastic Syndromes. Cancer Discov. 2018; 8(11).
- Zhang C, Seo J, Murakami K, Salem ESB, Bernhard E, Borra VJ, Choi K, Yuan CL, Chan CC, Chen X, Huang T, Weirauch MT, Divanovic S, Qi NR, Thomas HE, Mercer CA, Siomi H, Nakamura T. Hepatic Ago2-mediated RNA silencing controls energy metabolism linked to AMPK activation and obesity-associated pathophysiology. Nat Commun. 2018; 9(1).
- Slone J, Gui B, Huang T. The current landscape for the treatment of mitochondrial disorders. J Genet Genomics. 2018; 45(2).
- Zhang J, Liu H, Luo S, Lu Z, Chávez-Badiola A, Liu Z, Yang M, Merhi Z, Silber SJ, Munné S, Konstantinidis M, Wells D, Tang JJ, Huang T. Corrigendum to 'Live birth derived from oocyte spindle transfer to prevent mitochondrial disease': [Reproductive BioMedicine Online 34 (2017) 361-368]. Reprod Biomed Online. 2017; 35(6).
- Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Gril S, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, Sellars E, Sparagana SP, Gibson JB, Reinholdt LG, Tang S, Huang T. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Hum Mol Genet. 2017; 26(24).
- Gui B, Slone J, Huang T. Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders? Front Genet. 2017; 8.
- Li Z, Peng Y, Hufnagel RB, Hu YC, Zhao C, Queme LF, Khuchua Z, Driver AM, Dong F, Lu QR, Lindquist DM, Jankowski MP, Stottmann RW, Kao WWY, Huang T. Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice. Hum Mol Genet. 2017; 26(19).
- Slone J, Zhang J, Huang T. Experience from the First Live-Birth Derived From Oocyte Nuclear Transfer as a Treatment Strategy for Mitochondrial Diseases. J Mol Genet Med. 2017; 11(2).
- Zhang JJ, Liu H, Luo S, Lu Z, Chávez-Badiola A, Liu Z, Yang M, Merhi Z, Silber SJ, Munné S, Konstantinidis M, Wells D, Huang T. Corrigendum to 'Live birth derived from oocyte spindle transfer to prevent mitochondrial disease' [Reproductive BioMedicine Online 34 (2017) 361-368]. Reprod Biomed Online. 2017; 35(1).
- Yang L, Na CL, Luo S, Wu D, Hogan S, Huang T, Weaver TE. The Phosphatidylcholine Transfer Protein Stard7 is Required for Mitochondrial and Epithelial Cell Homeostasis. Sci Rep. 2017; 7.
- Wang M, Peng Y, Zheng J, Zheng B, Jin X, Liu H, Wang Y, Tang X, Huang T, Jiang P, Guan MX. A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function. Nucleic Acids Res. 2016; 44(22).
- Kang E, Wu J, Gutierrez NM, Koski A, Tippner-Hedges R, Agaronyan K, Platero-Luengo A, Martinez-Redondo P, Ma H, Lee Y, Hayama T, Van Dyken C, Wang X, Luo S, Ahmed R, Li Y, Ji D, Kayali R, Cinnioglu C, Olson S, Jensen J, Battaglia D, Lee D, Wu D, Huang T, Wolf DP, Temiakov D, Belmonte JC, Amato P, Mitalipov S. Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations. Nature. 2016; 540(7632).
- Valencia CA, Wang X, Wang J, Peters A, Simmons JR, Moran MC, Mathur A, Husami A, Qian Y, Sheridan R, Bove KE, Witte D, Huang T, Miethke AG. Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism. PLoS One. 2016; 11(8).
- Tang ZH, Chen JR, Zheng J, Shi HS, Ding J, Qian XD, Zhang C, Chen JL, Wang CC, Li L, Chen JZ, Yin SK, Huang TS, Chen P, Guan MX, Wang JF, Huang T. Genetic Correction of Induced Pluripotent Stem Cells From a Deaf Patient With MYO7A Mutation Results in Morphologic and Functional Recovery of the Derived Hair Cell-Like Cells. Stem Cells Transl Med. 2016; 5(5).
- Grams SE, Argiropoulos B, Lines M, Chakraborty P, Mcgowan-Jordan J, Geraghty MT, Tsang M, Eswara M, Tezcan K, Adams KL, Linck L, Himes P, Kostiner D, Zand DJ, Stalker H, Driscoll DJ, Huang T, Rosenfeld JA, Li X, Chen E. Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications. Am J Med Genet A. 2016; 170A(4).
- Jiang P, Jin X, Peng Y, Wang M, Liu H, Liu X, Zhang Z, Ji Y, Zhang J, Liang M, Zhao F, Sun YH, Zhang M, Zhou X, Chen Y, Mo JQ, Huang T, Qu J, Guan MX. The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. Hum Mol Genet. 2016; 25(3).
- Jiang P, Liang M, Zhang C, Zhao X, He Q, Cui L, Liu X, Sun YH, Fu Q, Ji Y, Bai Y, Huang T, Guan MX. Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. Hum Mol Genet. 2016; 25(16).
- Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016; 98(6).
- Chen JR, Tang ZH, Zheng J, Shi HS, Ding J, Qian XD, Zhang C, Chen JL, Wang CC, Li L, Chen JZ, Yin SK, Shao JZ, Huang TS, Chen P, Guan MX, Wang JF, Huang T. Effects of genetic correction on the differentiation of hair cell-like cells from iPSCs with MYO15A mutation. Cell Death Differ. 2016; 23(8).
- Chen J, Riazifar H, Guan MX, Huang T. Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targets. Stem Cell Res Ther. 2016; 7.
- Kang E, Wang X, Tippner-Hedges R, Ma H, Folmes CD, Gutierrez NM, Lee Y, Van Dyken C, Ahmed R, Li Y, Koski A, Hayama T, Luo S, Harding CO, Amato P, Jensen J, Battaglia D, Lee D, Wu D, Terzic A, Wolf DP, Huang T, Mitalipov S. Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs. Cell Stem Cell. 2016; 18(5).
- Barber JC, Rosenfeld JA, Graham JM, Kramer N, Lachlan KL, Bateman MS, Collinson MN, Stadheim BF, Turner CL, Gauthier JN, Reimschisel TE, Qureshi AM, Dabir TA, Humphreys MW, Marble M, Huang T, Beal SJ, Massiah J, Taylor EJ, Wynn SL. Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance. Am J Med Genet A. 2015; 167A(9).
- Riazifar H, Sun G, Wang X, Rupp A, Vemaraju S, Ross-Cisneros FN, Lang RA, Sadun AA, Hattar S, Guan MX, Huang T. Phenotypic and functional characterization of Bst+/- mouse retina. Dis Model Mech. 2015; 8(8).
- Ma H, Folmes CD, Wu J, Morey R, Mora-Castilla S, Ocampo A, Ma L, Poulton J, Wang X, Ahmed R, Kang E, Lee Y, Hayama T, Li Y, Van Dyken C, Gutierrez NM, Tippner-Hedges R, Koski A, Mitalipov N, Amato P, Wolf DP, Huang T, Terzic A, Laurent LC, Izpisua Belmonte JC, Mitalipov S. Metabolic rescue in pluripotent cells from patients with mtDNA disease. Nature. 2015; 524(7564).
- Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015; 47(8).
- Jiang P, Liang M, Zhang J, Gao Y, He Z, Yu H, Zhao F, Ji Y, Liu X, Zhang M, Fu Q, Tong Y, Sun Y, Zhou X, Huang T, Qu J, Guan MX. Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy. Invest Ophthalmol Vis Sci. 2015; 56(8).
- Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S. Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS Genet. 2015; 11(3).
- Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. 2015; 52(2).
- Kwong JQ, Davis J, Baines CP, Sargent MA, Karch J, Wang X, Huang T, Molkentin JD. Genetic deletion of the mitochondrial phosphate carrier desensitizes the mitochondrial permeability transition pore and causes cardiomyopathy. Cell Death Differ. 2014; 21(8).
- Gong S, Peng Y, Jiang P, Wang M, Fan M, Wang X, Zhou H, Li H, Yan Q, Huang T, Guan MX. A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential. Nucleic Acids Res. 2014; 42(12).
- Yang L, Tan Z, Wang D, Xue L, Guan MX, Huang T, Li R. Species identification through mitochondrial rRNA genetic analysis. Sci Rep. 2014; 4.
- Brodehl A, Dieding M, Klauke B, Dec E, Madaan S, Huang T, Gargus J, Fatima A, Saric T, Cakar H, Walhorn V, Tönsing K, Skrzipczyk T, Cebulla R, Gerdes D, Schulz U, Gummert J, Svendsen JH, Olesen MS, Anselmetti D, Christensen AH, Kimonis V, Milting H. The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death. Circ Cardiovasc Genet. 2013; 6(6).
- Zhang J, Zhao F, Fu Q, Liang M, Tong Y, Liu X, Lin B, Mi H, Zhang M, Wei QP, Xue L, Jiang P, Zhou X, Mo JQ, Huang T, Qu J, Guan MX. Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families. Mitochondrion. 2013; 13(6).
- Fan Y, Steller J, Gonzalez IL, Kulik W, Fox M, Chang R, Westerfield BA, Batra AS, Wang RY, Gallant NM, Pena LS, Wang H, Huang T, Bhuta S, Penny DJ, McCabe ER, Kimonis VE. A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome. JIMD Rep. 2013; 11.
- Xu S, Vu NHT, Chao E, Simon M, Zoleikhaeian M, Kimonis V, Huang T, Mozaffar T, Wallace DC. Summary of the mitochondrial findings in a series of 300 cases.. Mitochondrion. 2013; 13(6).
- Esmailpour T, Huang T. TBX3 promotes human embryonic stem cell proliferation and neuroepithelial differentiation in a differentiation stage-dependent manner. Stem Cells. 2012; 30(10).
- Park J, Liang D, Kim JW, Luo Y, Huang T, Kim SY, Chang SS. Nail DNA and possible biomarkers: a pilot study. J Prev Med Public Health. 2012; 45(4).
- Ji F, Sharpley MS, Derbeneva O, Alves LS, Qian P, Wang Y, Chalkia D, Lvova M, Xu J, Yao W, Simon M, Platt J, Xu S, Angelin A, Davila A, Huang T, Wang PH, Chuang LM, Moore LG, Qian G, Wallace DC. Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans. Proc Natl Acad Sci U S A. 2012; 109(19).
- Huang T. Next generation sequencing to characterize mitochondrial genomic DNA heteroplasmy. Curr Protoc Hum Genet. 2011; Chapt.
- Liu J, Esmailpour T, Shang X, Gulsen G, Liu A, Huang T. TBX3 over-expression causes mammary gland hyperplasia and increases mammary stem-like cells in an inducible transgenic mouse model. BMC Dev Biol. 2011; 11.
- Santarelli R, Starr A, del Castillo I, Huang T, Scimemi P, Cama E, Rossi R. Presynaptic and postsynaptic mechanisms underlying auditory neuropathy in patients with mutations in the OTOF or OPA1 gene.. Audiological Medicine. 2011; 9(2).
- Tang S, Batra A, Zhang Y, Ebenroth ES, Huang T. Left ventricular noncompaction is associated with mutations in the mitochondrial genome. Mitochondrion. 2010; 10(4).
- Luo Y, Tang S, Gao W, Chen L, Yang X, Huang T, Gao Y. Genotyping mitochondrial DNA single nucleotide polymorphisms by PCR ligase detection reactions. Clin Chem Lab Med. 2010; 48(4).
- Shahrestani P, Leung HT, Le PK, Pak WL, Tse S, Ocorr K, Huang T. Heterozygous mutation of Drosophila Opa1 causes the development of multiple organ abnormalities in an age-dependent and organ-specific manner. PLoS One. 2009; 4(8).
- Tang S, Le PK, Tse S, Wallace DC, Huang T. Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production. PLoS One. 2009; 4(2).
- Luo Y, Gao W, Gao Y, Tang S, Huang Q, Tan X, Chen J, Huang T. Mitochondrial genome analysis of Ochotona curzoniae and implication of cytochrome c oxidase in hypoxic adaptation. Mitochondrion. 2008; 8(5-6).
- Yarosh W, Barrientos T, Esmailpour T, Lin L, Carpenter PM, Osann K, Anton-Culver H, Huang T. TBX3 is overexpressed in breast cancer and represses p14 ARF by interacting with histone deacetylases. Cancer Res. 2008; 68(3).
- Yarosh W, Monserrate J, Tong JJ, Tse S, Le PK, Nguyen K, Brachmann CB, Wallace DC, Huang T. The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment. PLoS Genet. 2008; 4(1).
- Pan HF, Long GF, Li Q, Feng YN, Lei ZY, Wei HW, Huang YY, Huang JH, Lin N, Xu QQ, Ling SY, Chen XJ, Huang T. Current status of thalassemia in minority populations in Guangxi, China. Clin Genet. 2007; 71(5).
- Fan W, Huang X, Chen C, Gray J, Huang T. TBX3 and its isoform TBX3+2a are functionally distinctive in inhibition of senescence and are overexpressed in a subset of breast cancer cell lines. Cancer Res. 2004; 64(15).
- Sun G, Lewis LE, Huang X, Nguyen Q, Price C, Huang T. TBX5, a gene mutated in Holt-Oram syndrome, is regulated through a GC box and T-box binding elements (TBEs). J Cell Biochem. 2004; 92(1).
- Zaragoza MV, Lewis LE, Sun G, Wang E, Li L, Said-Salman I, Feucht L, Huang T. Identification of the TBX5 transactivating domain and the nuclear localization signal. Gene. 2004; 330.
- Huang T. Current advances in Holt-Oram syndrome. Curr Opin Pediatr. 2002; 14(6).
- Huang T, Lin AE, Cox GF, Golden WL, Feldman GL, Ute M, Schrander-Stumpel C, Kamisago M, Vermeulen SJ. Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene. Genet Med. 2002; 4(6).
- Huang T, Yang W, Pereira AC, Craigen WJ, Shih VE. Cloning and characterization of a putative human d-2-hydroxyacid dehydrogenase in chromosome 9q. Biochem Biophys Res Commun. 2000; 268(2).
- Basson CT, Huang T, Lin RC, Bachinsky DR, Weremowicz S, Vaglio A, Bruzzone R, Quadrelli R, Lerone M, Romeo G, Silengo M, Pereira A, Krieger J, Mesquita SF, Kamisago M, Morton CC, Pierpont ME, Müller CW, Seidman JG, Seidman CE. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc Natl Acad Sci U S A. 1999; 96(6).
- Huang T, Pavlovic J, Staeheli P, Krystal M. Overexpression of the influenza virus polymerase can titrate out inhibition by the murine Mx1 protein. J Virol. 1992; 66(7).
- Park KH, Huang T, Correia FF, Krystal M. Rescue of a foreign gene by Sendai virus. Proc Natl Acad Sci U S A. 1991; 88(13).
- Huang T, Hsu MT. Inhibition of DNA replication of adenovirus type 5 and simian virus 40 by tunicamycin. Virology. 1991; 182(2).
- Chu Y, Huang TS, Hsu MT, Huang T. P1 nuclease defines a subpopulation of active SV40 chromatin--a new nuclease hypersensitivity assay. Nucleic Acids Res. 1990; 18(13).
- Huang T, Palese P, Krystal M. Determination of influenza virus proteins required for genome replication.. Journal of Virology. 1990; 64.
- Huang T, Dong Y. Changes in protein metabolism in the soleus muscles of the scalded rats and the therapeutic effect of leucine and insulin (II). Journal of PLA Medical Colleges. 1987; 4.
- Huang T, Dong Y. Changes in protein metabolism in the soleus muscle of the scalded rats and therapeutic effect of leucine and insulin (I). Acta Academia Medicine (Chinese). 1987; 9.
- Huang T, Dong Y. Changes in protein and nucleic acid metabolism in the liver of the scalded rats. Acta Academia Medicine (Chinese). 1987; 10.
- Huang T, Dong Y. Assay of the protein turnover rate for skeletal muscle.. Biochem Biophys Acta (Chinese). 1987; 11.
Books and Book Chapters:
- Slone J, Huang T. Mitochondria and Disease. 2020.
- Li Z, Slone J, Wu L, Huang T. Neurodegenerative Diseases Associated with Mutations in SLC25A46. 2018.
- LaFerla FM, Huang T, Bieberich CJ, Jay G. Transgenic Strategy for Studying Viral Pathogenesis.. 1995.
Evaluative Studies and Case Reports:
- Tang W, Huang T, Xu Z, Huang Y. Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy. J Clin Gastroenterol. 2018; 52(1).
- Zhang J, Liu H, Luo S, Lu Z, Chávez-Badiola A, Liu Z, Yang M, Merhi Z, Silber SJ, Munné S, Konstantinidis M, Wells D, Tang JJ, Huang T. Live birth derived from oocyte spindle transfer to prevent mitochondrial disease. Reprod Biomed Online. 2017; 34(4).
- Leslie N, Wang X, Peng Y, Valencia CA, Khuchua Z, Hata J, Witte D, Huang T, Bove KE. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules. Hum Pathol. 2016; 49.
- Esmailpour T, Riazifar H, Liu L, Donkervoort S, Huang VH, Madaan S, Shoucri BM, Busch A, Wu J, Towbin A, Chadwick RB, Sequeira A, Vawter MP, Sun G, Johnston JJ, Biesecker LG, Kawaguchi R, Sun H, Kimonis V, Huang T. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J Med Genet. 2014; 51(3).
- Zhang C, Huang VH, Simon M, Sharma LK, Fan W, Haas R, Wallace DC, Bai Y, Huang T. Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions. FASEB J. 2012; 26(12).
- Strehle EM, Gruszfeld D, Schenk D, Mehta SG, Simonic I, Huang T. The spectrum of 4q- syndrome illustrated by a case series. Gene. 2012; 506(2).
- Strehle EM, Yu L, Rosenfeld JA, Donkervoort S, Zhou Y, Chen TJ, Martinez JE, Fan YS, Barbouth D, Zhu H, Vaglio A, Smith R, Stevens CA, Curry CJ, Ladda RL, Fan ZJ, Fox JE, Martin JA, Abdel-Hamid HZ, McCracken EA, McGillivray BC, Masser-Frye D, Huang T. Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region. Am J Med Genet A. 2012; 158A(9).
- Huang T, Santarelli R, Starr A. Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals. Brain Res. 2009; 1300.
- Tang S, Danda S, Zoleikhaeian M, Simon M, Huang T. An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation. Genet Test Mol Biomarkers. 2009; 13(4).
- Tang S, Xu Q, Xu X, Du J, Yang X, Jiang Y, Wang X, Speck N, Huang T. A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails. BMC Med Genet. 2007; 8.
- Quadrelli A, Vaglio A, Quadrelli R, Mechoso B, Fan YS, Huang T. High-density array comparative genomic hybridization analysis and follow-up of a child with a de novo complex chromosome rearrangement detected prenatally. Prenat Diagn. 2007; 27(10).
- Quadrelli R, Strehle EM, Vaglio A, Larrandaburu M, Mechoso B, Quadrelli A, Fan YS, Huang T. A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient. Genet Test. 2007; 11(1).
- Lyon HM, Holmes LB, Huang T. Multiple congenital anomalies associated with in utero exposure of phenytoin: possible hypoxic ischemic mechanism? Birth Defects Res A Clin Mol Teratol. 2003; 67(12).
- Drapkin RI, Genest DR, Holmes LB, Huang T, Vargas SO. Unilateral transverse arm defect with subterminal digital nubbins. Pediatr Dev Pathol. 2003; 6(4).
- Huang T, Korson MS, Krauss C, Holmes LB. Four cases with hypoplastic thumbs and encephaloceles. Am J Med Genet. 2002; 111(2).
- Huang T, Lock JE, Marshall AC, Basson C, Seidman JG, Seidman CE. Causes of clinical diversity in human TBX5 mutations. Cold Spring Harb Symp Quant Biol. 2002; 67.
- Huang T, Elias ER, Mulliken JB, Kirse DJ, Holmes LB. A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs. Genet Med. 1999; 1(3).
Professional Memberships:
- The Association of Chinese Geneticists in America (ACGA); President (2019–2021)
- International Society of Reproductive Genetics; Board of Director (2019–2023)
- The Association of Chinese Geneticists in America (ACGA); President-elect (2018–2019)
- American Medical Association (2005–present)
- Fellow, American College of Medical Genetics (2003–present)
- Western Society for Pediatric Research (2001–present)
- American Society of Human Genetics (1999–present)
- American Academy of Pediatrics (1995–present)
- American Association for Advancement of Science (1988–present)
Presentations:
- "GENE THERAPY & GENETIC DISEASES" PRECISION MEDICINE AND BIG DATA ZOOM CONFERENCE (2020)
- "GENE THERAPY & GENETIC DISEASES" ZOOM CONFERENCE, SHANGHAI CHILDREN’S HOSPITAL (2020)
- "Organizing Committee Member" 5th Global Congress on Pediatrics & Neonatology (2020)
- "Mitochondria and Reproductive Medicine" , International Society of Reproductive Genetics (ISRG) (2019)
- "New Insights into Mitochondrial Medicine, Keynote Speaker" The Association of Chinese Geneticists in America (ACGA) Annual Meeting, The Association of Chinese Geneticists in America (ACGA) (2019)
- "Mitochondria Health and Diseases" (2019)
- "New Insights into Mitochondrial Medicine" , Jiangxi Children's Hospital (2019)
- "New Insights into Mitochondrial Medicine" , Xinhua Hospital (2019)
- "New Insights into Mitochondrial Medicine" , Shanghai Children Hospital (2019)
- "New Insights into Mitochondrial Medicine" , Jiangxi Agricultural University (2019)
- "New Insights into Mitochondrial Medicine, Keynote Speaker" World Chinese Pediatrician Conference-Qingdao (2019)
- "Carrier Screening" , Sichuan University, School of Medicine (2019)
- "New Insights into Mitochondrial Medicine" , Tulane University (2019)
- "Mitochondria Health and Diseases" , Wenzhou Medical University (2018)
- "Mitochondria Health and Diseases" , University of Iowa (2018)
- "First Live Birth of Mitochondrial Replacement Therapy" The 30th Anniversary of ART in China (2018)
- "Medical Genetic System in USA" Annual Meeting National Society of Genetic Counseling (2018)
- "Genetics of Mitochondrial Diseases, Keynote speaker" Annual meeting on Women and Children’s Health (2018)
- "Mitochondria Health and Diseases" CAMA Annual Lecture (2018)
- "Mitochondrial Diseases" AY19 Neurogenetics Lectures (2018)
- "Mitochondrial-Related Retinopathy" , National Eye Institute, NIH (2017)
- "First Live birth derived from oocyte spindle transfer to prevent mitochondrial disease" American Society of Human Genetics Annual Meeting, American Society of Human Genetics (2017)
- "Organizing Committee Member" 3rd Annual Congress on Rare Diseases and Orphan Drugs (2017)
- "Mitochondria in Health & Disease" , University at Buffalo (2017)
- "Mitochondria in Health & Disease, Departmental Seminar" , Indiana University (2017)
- "Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy" ACMGG annual meeting, ACMGG (2017)
Service Activities:
- Editorial Board member for American Journal of Aging Science and Research (AJASR); Editorial Board Member (2020–present)
- Editorial Board member for the Journal of Embryology & Stem Cell Research (JES); Editorial Board Member (2020–present)
- Editorial Board member for the Journal of Genome Research and Genetic Therapies; Editorial Board Member (2020–present)
- Reviewer Board member for Gene; Board Member (2020–present)
- Editorial Board member for Mitochondrion; Editorial Board Member (2019–present)
- Congressionally Directed Medical Research Program (CDMRP), Department of Defense. USA; Panel Member (2017–present)
- Editorial Board member for Pediatric Research and Neonatal Care; Editorial Board Member (2017–present)
- Editorial Board member for Progress in Ophthalmology and Vision research Journal; Editorial Board Member (2017–present)
- Editorial Board member for the Annals of Pediatric Research; Editorial Board Member (2017–present)
- Editorial Board member for the Journal of Gene Therapy and Research; Editorial Board Member (2017–present)
- Editorial Board member for the Journal of Genetic, Molecular and Cellular Biology; Editorial Board Member (2017–present)
- Editorial Board member for the Journal of Genetics and Genomes; Executive Board (2017–present)
- Editorial Board member for the Journal of Neuro-Ophthalmology Research; Editorial Board Member (2017–present)
- Editorial Board member for the Journal of Ocular Diseases and Therapeutics; Editorial Board Member (2017–present)
- National Institute of Health Study Section, NIH Regenerative Medicine Innovation project (RMIP); Panel Member (2017–present)
- Editorial Board member for Current Updates in Ophthalmology; Editorial Board Member (2016–present)
- Editorial Board member for Henry Journal of Perinatology and Pediatrics; Editorial Board Member (2016–present)
- Editorial Board member for JSM Biology; Editorial Board Member (2016–present)
- Editorial Board member for Nature Genomic Medicine; Editorial Board Member (2016–present)
- Editorial Board member for Ophthalmic Surgery; Editorial Board Member (2016–present)
- Editorial Board member for SOJ Ophthalmology; Editorial Board Member (2016–present)
- Editorial Board member for the Gavin Journal of Pediatrics; Editorial Board Member (2016–present)
- Editorial Board member for the Journal CRESSCO Journal of Reproductive Science (CJRS); Editorial Board Member (2016–present)
- Editorial Board member for the Journal of Genetics and Molecular Biology; Editorial Board Member (2016–present)
- Editorial Board member for The Journal of Perinatology and Pediatrics; Editorial Board Member (2016–present)
- Editorial Board member for the Journal of Ophthalmology and Visual Sciences (JOVS); Editorial Board Member (2015–present)
- Editorial Board member for the World Journal of Complex Medicine; Editorial Board Member (2015–present)
- Steering committee member, standardized residency and fellowship training, Chinese Medical Doctor Association; Committee Member (2015–present)
- 2014- Scientific Advisor to Chinese Ministry of Health on Birth Defect Control; Advisor (2014–present)
- Advisory committee member to Chinese Ministry of Health on Medical Genetic program; Committee Member (2014–present)
- Committee Chair, Advisory Committee, Beijing International Medical Center; Chair (2013–present)
- Editorial Board member for the American Journal of Stem Cells (AJSC); Editorial Board Member (2013–present)
- Grant Reviewer, Icelandic Research Fund; Grant Reviewer (2012–present)
- Council On Research, Computing And Libraries, University of California, Irvine; Committee Member (2011–present)
- Grant Reviewer for Wellcome Trust; Grant Reviewer (2011–present)
- Grant Reviewer, South Africa’s National Research Foundation (NRF); Grant Reviewer (2011–present)
- Scientific advisory committee member to Chinese Ministry of Health on Target Therapy.; Committee Member (2010–2012)
- Canada Foundation for Innovation, Canada; Other (2010–present)
- Grant Reviewer for Italian Ministry of Health, Republic of Italy; Grant Reviewer (2010–present)
- The Research Committee, the Committee on Committees, School of Medicine, University of California, Irvine; Committee Member (2010–present)
- 2009 National Institute of Health Study Section, Emphasis Panel (SEP- ZRG1 OBT A 58); Member (2009–present)
- Mentoring committee, School of Medicine, University of California, Irvine; Committee Member (2009–present)
- Scholarship Oversight Committee Neonatal-Perinatal Medicine Fellowship Program, University of California, Irvine; Committee Member (2006–2012)
- Western Review Consortium, Peer Review Committee Member, American Heart Association, Western States Affiliate; Committee Member (2005–2012)
- Medical Research Council Grant Reviewer, England; Grant Reviewer (2005–present)
- Special Committee Member of Yusheng Youyu, People’s Republic of China; Committee Member (2005–present)
- Peer Reviewer of National Natural Science Foundation of China (NSFC), People’s Republic of China; Peer Reviewer (2004–2012)
- Member, Data safety committee, General Clinical Research Center, UCI; Member (2004–present)
- School of Medicine Representative Assembly member; Member (2003–2006)
- Member, Advisory committee, General Clinical Research Center, UCI; Member (2001–2004)