Bellen Lab

Yan Huang

Yan Huang

BS, Hunan Agricultural University, China
MS, Hunan Agricultural University, China
PhD, University of Chinese Academy of Sciences, China (Yong Q. Zhang)

Research Interests

I am interested in unraveling the molecular pathways that underlie rare genetic neurological diseases in infants using Drosophila as a model organism. The fly allows us to efficiently study and analyze the underlying pathogenic mechanisms of these genetic diseases. An in-depth investigation of the affected cellular and molecular pathways allows us to identify molecular targets and sometimes existing drugs that affect these targets and hence allow therapeutic development. These studies often also shed light on much more common diseases like Parkinson's Disease, Alzheimer Disease and Multiple Sclerosis.

Publications

Huang Y*, Lemire G*, Briere LC*, Liu F, Wessels MW, Wang X, Osmond M,Kanca O, Lu S, High FA, Walker MA, Rodan LH, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ (2022) The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. American Journal of Human Genetics 109(10):1923-1931. *contributed equally  [Abstract]
Huang Y, Ma M, Mao X, Pehlivan D, Kanca O, Un-Candan F, Shu L, Akay G, Mitani T, Lu S, Candan S, Wang H, Xiao B, Lupski JR, Bellen HJ (2022) Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms. Human Molecular Genetics :doi: 10.1093/hmg/ddac070.  [Abstract]
Lu S, Herman R, Marcogliese PC, Huang Y, Gertler TS, Akcaboy M, Liu S, Chung HL, Pan X, Sun X, Oguz M, Oztoprak U, deBaaij JHF, Ivanisevic J, McGinnis E, Guillen Sacoto MJ, Chung WK#, Bellen HJ# (2022) Loss of function variants in TIAM1 are associated with developmental delay, intellectual disability and seizures. AJHG :DOI: 10.1016/j.ajhg.2022.01.020. #co-corresponding  [Abstract]
Huang Y, Mao X, van Jaarsveld RH, Shu L, Terhal PA, Jia Z, Xi H, Peng Y, Yan H, Yuan S, Li O, Wang H, Bellen HJ (2020)  Variants in CAPZA2, a member of a F-actin capping complex, cause intellectual disability and developmental delay. Human Molecular Genetics 29(9):1537-1546.  [Abstract]
Huang Y, Huang S, Di Scala C, Wang Q, Wandall HH, Fantini J, Zhang YQ (2018) The glycosphingolipid MacCer promotes synaptic bouton formation in Drosophila by interacting with Wnt. eLife 7:e38183.  [Abstract]
Huang Y, Huang S, Lam SM, Liu Z, Shui G, Zhang YQ (2016) Acsl, the Drosophila ortholog of intellectual-disability-related ACSL4, inhibits synaptic growth by altered lipids. Journal of Cell Science 129:4034-4045.  [Abstract]
Liu Z*, Huang Y*, Hu W, Huang S, Wang Q, Han J, Zhang YQ (2014) dAcsl, the Drosophila ortholog of acyl-CoA synthetase long-chain family member 3 and 4, inhibits synapse growth by attenuating bone morphogenetic protein signaling via endocytic recycling. Journal of Neuroscience 34:2785-2796. (*equal contribution) [Abstract]
Liu Z, Huang Y, Zhang Y, Chen D, Zhang YQ (2011) Drosophila Acyl-CoA synthetase long-chain family member 4 regulates axonal transport of synaptic vesicles and is required for synaptic development and transmission. Journal of Neuroscience 31:2052-2063.  [Abstract]
Last Modified 12-04-2023

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