15 publications found.
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Link N, Chung H, Jolly A, Withers M, Tepe B, Arenkiel BR, Shah PS, Krogan NJ, Aydin H, Geckinli BB, Tos T, Isikay S, Tuysuz B, Mochida GH, Thomas AX, Clark RD, Mirzaa GM, Lupski JR, Bellen HJ (2019). Mutations in ANKLE2, a ZIKA virus target, disrupt an asymmetric cell division pathway in Drosophila neuroblasts to cause microcephaly. Developmental Cell 51(6):713-729 Abstract
Wang J, Rousseau J, Kim E, Ehresmann S, Cheng YT, Duraine L, Zuo Z, Park YJ, Li-Kroeger D, Bi W, Wong LJ, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya FS, Wierenga KJ, Chen J, Afenjar A, Nava C, Doummar D, Keren B, Juusola J, Grompe M, Bellen HJ*, Campeau PM* (2019). Loss of Oxidation Resistance 1, OXR1, is associated with an autosomal-recessive neurological disease with cerebellar atrophy and lysosomal dysfunction. The American Journal of Human Genetics 105(6):1237-1253 Abstract *co-corresponding authors
Bellen HJ, Wangler MF, Yamamoto S (2019). The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases. Human Molecular Genetics 28(R2):R207-R214 Abstract
Ansar M, Chung HL, Al-Otaibi A, Elagabani MN, Ravenscroft TA, Paracha SA, Scholz R, Abdel Magid T, Sarwar MT, Shah SF, Qaisar AA, Makrythanasis P, Marcogliese PC, Kamsteeg EJ, Falconnet E, Ranza E, Santoni FA, Aldhalaan H, Al-Asmari A, Faqeih EA, Ahmed J, Kornau HC, Bellen HJ*, Antonarakis SE* (2019). Bi-allelic variants in IQSEC1 cause intellectual disability, developmental delay and short stature. The American Journal of Human Genetics 105:907-920 Abstract *co-corresponding authors
Kanca O, Zirin J, Garcia-Marques J, Knight S, Yang-Zhou D, Amador G, Chung HL, Zuo Z, Ma L, He Y, Lin WW, Fang Y, Ge M, Yamamoto S, Schulze KL, Hu Y, Spradling AC, Mohr SE, Perrimon N, Bellen HJ (2019). An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms. eLife 8:e51539 Abstract
Kanca O, Bellen HJ (2019). La CaSSA da Drosophila: a versatile expansion of the tool box. Neuron 23:177-179 Abstract
Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE (2019). Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nature Communications 10:4679 Abstract
Wang J, Mao D, Fazal F, Kim SY, Yamamoto S, Bellen H, Liu Z (2019). Using MARRVEL v1.2 for bioinformatics analysis of human genes and variant pathogenicity. Current Protocols in Bioinformatics 67:e85 Abstract
Wang J, Liu Z, Bellen HJ, Yamamoto S (2019). Navigating MARRVEL, a web-based tool that integrates human genomics and model organism genetics information. Journal of Visualized Experiments: JoVE 150:59542 Abstract video
Ojelade SA, Lee TV, Giagtzoglou N, Yu L, Ugur B, Li Y, Duraine L, Zuo Z, Petyuk V, De Jager PL, Bennett DS, Arenkiel BR, Bellen HJ, Shulman JM (2019). cindr, the Drosophila homolog of the CD2AP Alzheimer's disease susceptibility gene, is required for synaptic transmission and proteostasis. Cell Reports 28:1799-1813 Abstract
Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ*, Malicdan MCV* (2019). De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia. The American Journal of Human Genetics 105:413-424 Abstract *co-corresponding authors
Şentürk M, Mao D, Bellen HJ (2019). Loss of proteins associated with amyotrophic lateral sclerosis affects lysosomal acidification via different routes. Autophagy 28:1-3 Abstract
Şentürk M, Lin G, Mao D, Zuo Z, Watson E, Mikos AG, Bellen HJ (2019). Ubiquilins regulate autophagic flux through mTOR signaling and lysosomal acidification. Nature Cell Biology 21:384-396 Abstract
Mao D, Lin G, Tepe B, Zuo Z, Tan KL, Senturk M, Zhang S, Arenkiel BR, Sardiello M, Bellen HJ (2019). VAMP associated proteins are required for autophagic and lysosomal degradation by promoting a PtdIns4P-mediated endosomal pathway. Autophagy 11:1-20 Abstract
Lin G, Wang L, Marcogliese PC, Bellen HJ (2019). Sphingolipids in the pathogenesis of Parkinson's disease and parkinsonism. Trends in Endocrinology & Metabolism 30:106-117 Abstract