Google Scholar. The ones marked * may be different from the article in the profile. It remains controversial whether the mutation exerts neurotoxicity by changing the function of CaV2.1 channel or through a gain-of-function mechanism associated with accumulation of the expanded polyglutamine protein. Huda Y. Zoghbi; Chapter. MEDICINE Some of the dramatic neurological problems of Rett syndrome can be reversed in an experimental mouse model, researchers have found. letter nature genetics • volume 23 • october 1999 185 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Ruthie E. Amir 1, Ignatia B. Search for other works by this author on: Oxford Academic. Add co-authors Co-authors. 4. Antallet under "Citeret af" inkluderer henvisninger fra følgende artikler i Scholar. Google Scholar. and. Follow this author. During embryonic development of the inner ear, the sensory primordium that gives rise to the organ of Corti from within the cochlear epithelium is patterned into a stereotyped array of inner and outer sensory hair cells separated from each other by non-sensory supporting cells. Google Scholar. Granule neuron precursors (GNPs) are the most actively proliferating cells in the postnatal nervous system, and mutations in pathways that control the GNP cell cycle can result in medulloblastoma. Google Scholar. Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodegenerative disease caused by an abnormal expansion of CAG repeats in the Ataxin1 (ATXN1) gene. When this gene is absent in mice, they display neurological symptoms similar to Rett syndrome. Simply select your manager software from the list below and click on download. PDF Gendan Slet for evigt. Questo conteggio "Citato da" include citazioni ai seguenti articoli in Scholar. Follow this author. Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder caused by CAG repeat expansions within the voltage-gated calcium (CaV) 2.1 channel gene. Upload PDF. Email address for updates. Email address for updates. Huda Y. Zoghbi. Citazioni unite. Done. Huda Y. Zoghbi * 1. Done. 1 Citations; 212 Downloads; Abstract. Rett syndrome (RTT) is characterized by specific motor, cognitive, and behavioral deficits. The ones marked * may be different from the article in the profile. The authors thank Dr. Huda Zoghbi (Baylor College of Medicine, Houston, TX) for the kind gift of the conditional mouse lines. Nature 389: 974–978 [Google Scholar] Opal P, Zoghbi HY (2002) The role of chaperones in polyglutamine disease. PubMed. PDF Restore Delete Forever. Alan K. Percy, MD, Huda Y. Zoghbi, MD, Kay R. Lewis, MD, and Joseph Jankovic, MD. Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. Huda Zoghbi Professor Baylor College of Medicine Verified email at bcm.edu Hossein Aleyasin MD, PhD Icahn School of Medicine at Mount Sinai Verified email at mssm.edu Raymond H Kim University of Toronto Verified email at utoronto.ca Correspondence should be addressed to Huda Y. Zoghbi, Baylor College of Medicine, Mail Stop 225, One Baylor Plaza, Houston, TX 77030. Department of Neuroscience, Baylor College of Medicine, Houston 77030, USA. Methyl-CpG binding protein 2 (MeCP2) is a nuclear protein critical for normal brain function, and both depletion and overexpression of MeCP2 lead to severe neurodevelopmental disease, Rett syndrome (RTT) and MECP2 multiplication disorder, respectively. Department of Molecular and Human Genetics , Baylor College of Medicine, Houston 77030, USA. Segui questo autore. Beena Koshy, Beena Koshy 4 Departments of Pediatrics and Molecular and Human Genetics, Houston, TX 77030, USA. The authors acknowledge the contributions of Dr. Nikolaos A. Patsopoulos and Dr. Sergio E. Baranzini to the statistical and bioinformatics analysis of the human genome wide association study dataset. Flettede henvisninger. The ones marked * may be different from the article in the profile. I seguenti articoli sono uniti in Scholar. However, the molecular mechanism by which abnormal MeCP2 dosage causes neuronal dysfunction remains unclear. New articles related to this author's research . New articles related to this author's research. Search for other works by this author on: Oxford Academic. Google Scholar. E-mail: hzoghbi{at}bcm.tmc.edu. Lisa A. Duvick, Lisa A. Duvick 2 Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA. 3. Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant, polyglutamine-induced neurodegenerative disorder that results in loss of motor coordination caused primarily by a disruption of cerebellar Purkinje cell function. Add co-authors Co-authors. Follow this author. F. 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