PubMed. 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. Følg denne forfatter. Dr. Huda Y. Zoghbi is a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor College of Medicine. Search for other works by this author on: Oxford Academic. 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. If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. This "Cited by" count includes citations to the following articles in Scholar. MEDICINE Some of the dramatic neurological problems of Rett syndrome can be reversed in an experimental mouse model, researchers have found. Upload PDF. The ones marked * may be different from the article in the profile. The ones marked * may be different from the article in the profile. PubMed. Simply select your manager software from the list below and click on download. Google Scholar. New articles by this author . Contributed by Huda Y. Zoghbi, October 26, 2009 (received for review August 24, 2009) Article; Figures & SI; Info & Metrics; PDF; Abstract. In this study, we developed a conditional SCA1 mouse model to examine whether stopping expression of mutant ataxin-1 alters the disease phenotype. New articles by this author. Add co-authors Co-authors. The Neuroscientist 2004 10: 2, 118-128 Share. PDF Restore Delete Forever. 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. Share. I seguenti articoli sono uniti in Scholar. Google Scholar. There is an urgent need to develop new and more effective therapeutic strategies to combat these devastating diseases. 1 Citations; 212 Downloads; Abstract. Jeehye Park, Jeehye Park 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. Precisely how these transcription factors direct such processes is largely unknown due to the lack of bona fide targets in vivo . Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder caused by CAG repeat expansions within the voltage-gated calcium (CaV) 2.1 channel gene. SCA1 is characterized by motor deficits, cerebellar neurodegeneration, and gliosis and gene expression changes. Google Scholar. F. Battaglia's present address: Department of Physiology and Pharmacology, The City University of New York Medical School, New York, NY … Add co-authors Co-authors. This "Cited by" count includes citations to the following articles in Scholar. Follow this author. Email address for updates. Google Scholar. E-mail: hzoghbi{at}bcm.tmc.edu. However, the molecular mechanism by which abnormal MeCP2 dosage causes neuronal dysfunction remains unclear. Flettede henvisninger. PDF Ripristina Elimina per sempre. New citations to this author. Follow this author. Cross-species genetic screens reveal that decreased mitogen-activated protein kinase signalling reduces polyglutamine-expanded ataxin 1 levels and toxicity in models of spinocerebellar ataxia type 1. Done. The pontocerebellar hypoplasias are a heterogeneous group of rare and devastating conditions characterized by multiple structural abnormalities of the ventral pons, inferior olive, and cerebellum. Carica PDF. New articles related to this author's research . Rett syndrome (RTT) is characterized by specific motor, cognitive, and behavioral deficits. Tilføj medforfattere Medforfattere. New articles by this author. Howard Hughes Medical Institute, Baylor College of Medicine, Houston 77030, USA. Huda Y. Zoghbi; Chapter. Neurodegeneration is a feature of many debilitating, incurable diseases that are rapidly rising in prevalence, such as Parkinson's disease. Although the work does not have direct therapeutic applications, scientists studying the devastating genetic disorder hail the findings as a sign that treatments are at least possible in principle. Google Scholar. Nature 389: 974–978 [Google Scholar] Opal P, Zoghbi HY (2002) The role of chaperones in polyglutamine disease. Upload PDF. Lisa A. Duvick, Lisa A. Duvick 2 Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA. 2 Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, Houston, Texas 77030, USA. Deres samlede henvisninger tæller kun for den første artikel. This "Cited by" count includes citations to the following articles in Scholar. Huda Y. Zoghbi. 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. Thomas J. Kwiatkowski, Jr, Huda Y. Zoghbi, Susan A. Ledbetter, Kimberly A. Ellison, A.Craig Chinault; Rapid identification of yeast artificial chromosome clone Cerebellum 4: 7–18 [Google Scholar] Matilla A, Koshy B, Cummings CJ, Isobe T, Orr HT, Zoghbi HY (1997) The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Journal of Child Neurology 1988 3: 1_suppl, S65-S67 Download Citation . PDF Restore Delete Forever. Social Media; Email; Share Access; Share this article via social media. When this gene is absent in mice, they display neurological symptoms similar to Rett syndrome. Email address for updates. Department of Molecular and Human Genetics , Baylor College of Medicine, Houston 77030, USA. Antallet under "Citeret af" inkluderer henvisninger fra følgende artikler i Scholar. Done. Search for other works by this author on: Oxford Academic. When neuroscientist Huda Zoghbi first came face-to-face with Rett syndrome, she was well on her way to becoming a pediatric neurologist. Følgende artikler er flettet i Scholar. New citations to this author. 2. The transcription factor Atoh1 has been suspected to contribute to GNP proliferation, but its role in normal and neoplastic postnatal cerebellar development remains unexplored. Beena Koshy, Beena Koshy 4 Departments of Pediatrics and Molecular and Human Genetics, Houston, TX 77030, USA. Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. Sandro Banfi, Susan A. Ledbetter, A.Craig Chinault, Huda Y. Zoghbi; An easy and rapid method for the detection of chimeric yeast artificial chromosome clones, 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. Alan K. Percy, MD, Huda Y. Zoghbi, MD, Kay R. Lewis, MD, and Joseph Jankovic, MD. 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 Le loro citazioni combinate sono conteggiate solo per il primo articolo. PDF Gendan Slet for evigt. Huda Y. Zoghbi * 1. Citazioni unite. New articles related to this author's research. Huda Zoghbi discovered in 1999 that its primary cause is mutation of a specific gene, MECP2. Search for other works by this author on: … Upload PDF. The authors thank Dr. Huda Zoghbi (Baylor College of Medicine, Houston, TX) for the kind gift of the conditional mouse lines. The ones marked * may be different from the article in the profile. Add co-authors Co-authors. J Mol Med (Berl) 81: 61–68 [Google Scholar] Chahrour M, Zoghbi HY 2007. Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodegenerative disease caused by an abnormal expansion of CAG repeats in the Ataxin1 (ATXN1) gene. 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. Dem, der er markeret med *, kan afvige fra artiklen i profilen. Done. She is also an investigator at the Howard Hughes Medical Institute and the director of the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children's Hospital. Jeffrey L. Neul and Huda Y. Zoghbi. Correspondence should be addressed to Huda Y. Zoghbi, Baylor College of Medicine, Mail Stop 225, One Baylor Plaza, Houston, TX 77030. The e-mail addresses that you supply to use this service will not be used for any other purpose without your consent. and. Upload PDF. Questo conteggio "Citato da" include citazioni ai seguenti articoli in Scholar. 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. Department of Neuroscience, Baylor College of Medicine, Houston 77030, USA. New citations to this author. 3. Neural basic helix-loop-helix (bHLH) transcription factors are crucial in regulating the differentiation and neuronal subtype specification of neurons. Aggiungi coautori Coautori. Expansion of trinucleotide repeat sequences is the mutational mechanism in at least 16 neurological disorders, including fragile X type A syndrome, myotonic dystrophy, spinobulbar muscular atrophy, Huntington disease, and several others. 4. Email address for updates. PDF Restore Delete Forever. Quelli contrassegnati con * possono essere diversi dall'articolo nel profilo. New articles related to this author's research . Restoration of the absent gene reverses the neurological disorder. Segui questo autore. 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