Huang Research Lab

The primary interest of the Huang Laboratory is to study the molecular basis of genetic syndromes, to apply the discoveries from rare diseases to common conditions and to develop treatments for genetic diseases. Read more about our research.

Publications

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Eunju Kang, Xinjian Wang, Rebecca Tippner-Hedges, Hong Ma, Clifford D.L. Folmes, Nuria Marti Gutierrez, Yeonmi Lee, Crystal Van Dyken, Riffat Ahmed, Ying Li, Amy Koski, Tomonari Hayama, Shiyu Luo, Cary O. Harding, Paula Amato, Jeffrey Jensen, David Battaglia, David Lee, Diana Wu, Andre Terzic, Don P. Wolf, Taosheng Huang, Shoukhrat Mitalipov. Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs. Cell Stem Cell. 2016. In press.

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 Apr;170(4):967-77.

Leslie N, Wang X, Peng Y, Valencia CA, Khuchua Z, Hata J, Witte D, Huang T, Bove KE. Neonatal Multi-organ Failure due to ACAD9 Mutation and Complex I Deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubulesHuman Pathology. 2016 Mar;49:27-32. 

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 Feb 1;25(3):584-96.

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 Jan 7;7(1):2.

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; nine microduplications of likely or uncertain clinical significance. Am J Med Genet A. 2015 Sep;167A(9):2052-64.

Pingping Jiang, Min Liang, Xiaoling Liu, Minglian Zhang, Qun Fu, Sai Zhang, Min Gao, Zengjun Zhang, Fuxin Zhao, Yanchun Ji, Juanjuan Zhang, Yi Tong, Yanhong Sun, Xiangtian Zhou, Taosheng Huang, Jia Qu, Min-Xin Guan. Mitochondrial ND4 mutations in 1281 Han Chinese subjects with Leber’s hereditary optic neuropathy. IOVS. 2015 Jul;56(8):4778-88.

Hamidreza Riazifar, Guoli Sun, Xinjian Wang, Alan Rupp, Shruti Vemaraju, Fred N. Ross-Cisneros, Richard A. Lang, Alfredo A. Sadun, Samer Hattar, Min-Xin Guan, Taosheng Huang. Phenotypic and Functional Characterization of Bst+/- Mouse Retina. Disease Model and Mechanisms. 2015 Aug 1;8(8):969-76.

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 Aug 13;524(7564):234-8.

Alexander J Abrams, Robert B. Hufnagel, Adriana Rebelo, Claudia Zanna, Neville Patel, Michael Gonzalez, John Campeanu, Laurie Griffin, Saskia Groenewald, Alleene Strickland, Feifei Tao, Fiorella Speziani, Leonardo Caporali, Zubair M. Ahmed, Kristen L. Sund, Xinjian Wang, Laura A. Krueger, Yanyan Peng, Carlos E. Prada, Cynthia A. Prows,  Elizabeth K. Schorry, Anthony Antonellis, Holly H. Zimmerman, Omar A. Abdul-Rahman, Yaping Yang, Susan Downes, Jeffery Prince, Andrea Nemeth, Valerio Carelli, Taosheng Huang*, Stephan Zuchner*, Julia Dallman. Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder. Nature Genetics. 2015 Aug;47(8):926-32. * Corresponding authors.

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 Mar 25;11(3):e1005097.

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 Feb;52(2):85-94.

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 Aug;21(8):1209-17.

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 Jul;42(12):8039-48.

Yang L, Tan Z, Wang D, Xue L, Guan MX, Huang T, Li R. Species identification through mitochondrial rRNA genetic analysis. Sci Rep.2014 Feb 13;4:4089.

Esmailpour T, Riazifar H, Donkervoort S, Huang VH, Madaan S, Shoucri BM, Busch A, Liu JL, Wu J, Chadwick RB, 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. Journal of Medical Genetics. 2014 Mar;51(3):185-96. 

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):772-81.

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 Dec;6(6):615-23.

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;11:99-106.

Riazifar H, Jia Y, Chen J, Lynch G, Huang T. Chemically induced specification of retinal ganglion cells from human embryonic and induced pluripotent stem cells. Stem Cells Transl Med. 2014 Apr;3(4):424-32.

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 Mar;51(3):185-96.

Fuyun Ji, Mark S. Sharpley, Olga Derbenev, Leonardo Scherer Alves,  Pin Qian, Yaoli Wang,Dimitra Chalkiab, Maria Lvov, Jiancheng Xu, Wei Yao, Mariella Simon, Julia Platt, Shiqin Xu, Alessia Angelinb, Antonio Davil, Taosheng Huang, Ping H. Wang, Lee-Ming Chuang, Lorna G. Moore, Guisheng Qian, and Douglas C. Wallace. Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans, PNAS, 109(19):7391-6. 2012.

Chengkang Zhang, Vincent H. Huang, Mariella Simon, Lokendra K. Sharma, Weiwei Fan, Richard Haas, Douglas C. Wallace, Yidong Bai, Taosheng Huang. Heteroplasmic Mutations of the Mitochondrial Genome Cause Paradox Effects on Mitochondrial Functions . FASEB Journal, in press. 2012.

Taraneh Esmailpour and Taosheng Huang. TBX3 promotes human embryonic stem cell proliferation and neuroectoderm differentiation in a differentiation stage-dependent manner. Stem Cell, in press. 2012.

Joshua Park, Debbie Liang, Hoda Anton-Culver, Jung Woo Kim, Yongjun Luo, Taosheng Huang, Soo-Young Kim, Seong-Sil Chang. Nail DNA and Possible Biomarkers: A Pilot Study. J Prev Med Public Health. 45;235-243. 2012.

Eugen-Matthias Strehle, Linbo Yu, Jill A. Rosenfeld, Sandra Donkervoort, Yulin Zhou, Tian-Jian Chen, Jose E. Martinez, Yao-Shan Fan, Deborah Barbouth, Hongbo Zhu, Alicia Vaglio, Rosemarie Smith, Cathy A. Stevens, Cynthia J. Curry, Roger L. Ladda, Zheng (Jane) Fan, Joyce E. Fox, Judith A. Martin, Hoda Z. Abdel-Hamid, Elizabeth A. McCracken, Barbara C. McGillivray, Diane Masser-Frye and Taosheng Huang. Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region. Am J Med  Genet A,s,  158A:2139-2151, 2012. 

Eugen-Matthias Strehle, Dariuz Gruszfeld, Daniel Schenk, Sarju G. Mehta,Ingrid Simonic and Taosheng Huang, The spectrum of 4q- syndrome illustrated by a case series. Gene. 506(2):387-391. 2012.

Jing Liu, Taraneh Esmailpour, Xiying Shang, Gultekin Gulsen, Andy Liu & Taosheng HuangTBX3 overexpression in an inducible transgenic mouse model causes hyperplasia of the mammary glands and increased mammary stem cellsBMC Dev Biol. 11:65. 2011.

Luo, Y., Tang, S., Taosheng Huang*, and Gao, Y. Genotyping mitochondrial DNA single nucleotide polymorphisms by PCR ligase detection reactions. (* co-corresponding author) Clinical Chemistry and Laboratory Medicine. 48(4):475-83. 2010.

Sha Tang., and Taosheng Huang. Parallel sequencing for human mitochondrial DNA characterization and heteroplasmy quantification. Biotechniques. 48 (4):287–296. 2010.

Parvin Shojaeian, Hung-Tat Leung, Karen Ocorr, Rolf Bodmer, William L. Pak, Stephanie Tse, Phung Khanh Le, Kimberly Nguyen,Taosheng Huang.  Heterozygous mutation of Drosophila Opa1 causes the development of multiple organ abnormalities in an age-dependent and organ-specific manner. PLoS One. 4(8):e6867. 2009.

 Taosheng Huang, Rosamaria Santarelli, Arnold Starr.  Cochlear potentials accompanying R445H mutation of OPA1 gene in patients with both optic and auditory neuropathies . Brain Research; 1300:97-104. 2009.

Sha Tang, Sumita Danda, Mehrdad  Zoleikhaeian, Mariella Simon, Taosheng Huang.   An Indian Boy with Nephropathic Cystinosis: A Case Report and Molecular Analysis of CTNS Mutation. Genetic testing and Molecular Biomarkers. 13 (4): 435–438. 2009.

Sha Tang, Anjan Batra, Yu Zhang, Eric S Ebenroth, Taosheng Huang.  Mutations of the mitochondrial genome are associated with left ventricular noncompaction (LVNC). Mitochondrion, 10(4):350-7. 2009.

Will Yarosh, Jessica Monserrate, James Jiayuan Tong, Diane Le, Kimberly Nguyen, Carrie Brachmann Douglas Wallace, Taosheng Huang.  The Molecular Mechanisms of OPA1-Mediated Optic Atrophy in Drosophila Model and Prospects for Antioxidant Treatment. PLoS Genetics, 4(1):e6. Jan 2008.

Will Yarosh*, Tomasa Barrientos*, Taraneh Esmailpour, Limin Lin, Philip M. Carpenter, Kathryn Osann, Hoda Anton-Culver and Taosheng Huang. TBX3 is overexpressed in breast cancer and represses p14ARF by interacting with HDACs . Cancer Research, 68:693-699. 2008.  *These authors contribute equally.

Sha Tang, Stephanie Tse, Phung Khanh Le, Kimberly Nguyen, Douglas C. Wallace and Taosheng Huang. Heterozygous Mutation of Opa1 in Drosophila Shorten Lifespan Mediated through Increased Reactive Oxygen Species Production . PLoS One, 4(2):e4492. 2008.

Yongjun Luo, Wenxiang Gao, Yuqi Gao, Sha Tang, Qingyuan Huang, Xiaoling Tan, Jian Chen, Taosheng Huang.  Mitochondrial Genome Analysis of Ochotona curzoniae and Implication of Cytochrome c Oxidase in Hypoxic AdaptationMitochondrion, 8 (2008) 352–357. 2008.

Shaohua Tang, Qimin Xu, Xueqin Xu, Xiaomei Yang, Xiaoqin Wang, Nancy Speck, Taosheng Huang. A novel missense mutation in the RUNX2 gene causes cleidocranial dysplasia in a Chinese family with hyperplastic nails. BMC Med Genet. 8:82. 2007.

View all of Dr. Huang's publications in PubMed.

 

Taosheng Huang, MD, PhD

Taosheng Huang, MD, PhD

Professor, UC Department of Pediatrics
Email: taosheng.huang@cchmc.org

Curriculum Vitae

 

In the News

The lab's recently published research in Cell Stem Cell has implications for potential therapies using induced pluripotent stem (iPS) cells.

 

Read "When Diagnosis Brings Relief" in Research Horizons.

 

Findings contribute to big steps forward in treating Mitochondrial Disease.

 

Huang to Direct Mitochondrial Disease Program.