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PDF Restore Delete Forever. 3. The transcription factor Atoh1 has been suspected to contribute to GNP proliferation, but its role in normal and neoplastic postnatal cerebellar development remains unexplored. Le loro citazioni combinate sono conteggiate solo per il primo articolo. Add co-authors Co-authors. Huda Y. Zoghbi; Chapter. Restoration of the absent gene reverses the neurological disorder. Nature 389: 974–978 [Google Scholar] Opal P, Zoghbi HY (2002) The role of chaperones in polyglutamine disease. Social Media; Email; Share Access; Share this article via social media. Follow this author. Done. J Mol Med (Berl) 81: 61–68 [Google Scholar] Chahrour M, Zoghbi HY 2007. Google Scholar. New articles related to this author's research. 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. Quelli contrassegnati con * possono essere diversi dall'articolo nel profilo. 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. Antallet under "Citeret af" inkluderer henvisninger fra følgende artikler i Scholar. Email address for updates. There is an urgent need to develop new and more effective therapeutic strategies to combat these devastating diseases. Follow this author. Add co-authors Co-authors. Citazioni unite. E-mail: hzoghbi{at}bcm.tmc.edu. Questo conteggio "Citato da" include citazioni ai seguenti articoli in Scholar. 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, The ones marked * may be different from the article in the profile. 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. Huda Y. Zoghbi * 1. PDF Restore Delete Forever. Følgende artikler er flettet i Scholar. 2. Department of Molecular and Human Genetics , Baylor College of Medicine, Houston 77030, USA. 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. Jeehye Park, Jeehye Park 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. 2 Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, Houston, Texas 77030, USA. Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. 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. The ones marked * may be different from the article in the profile. Dr. Huda Y. Zoghbi is a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor College of Medicine. 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. New articles by this author. New citations to this author. Carica PDF. New articles by this author . The e-mail addresses that you supply to use this service will not be used for any other purpose without your consent. Search for other works by this author on: … PDF Ripristina Elimina per sempre. Upload PDF. PDF Gendan Slet for evigt. The ones marked * may be different from the article in the profile. Search for other works by this author on: Oxford Academic. Done. When this gene is absent in mice, they display neurological symptoms similar to Rett syndrome. 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. Search for other works by this author on: Oxford Academic. Nat Genet 23: 185–188 [Google Scholar] Balmer D, Goldstine J, Rao YM, LaSalle JM 2003. MEDICINE Some of the dramatic neurological problems of Rett syndrome can be reversed in an experimental mouse model, researchers have found. Impelled by the plight of the patients and intrigued by the bizarre mix of symptoms that mark the syndrome, Zoghbi boldly decided to change course, setting aside her clinical career to seek training in molecular genetics. 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. In this study, we developed a conditional SCA1 mouse model to examine whether stopping expression of mutant ataxin-1 alters the disease phenotype. 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. PubMed. Google Scholar. Journal of Child Neurology 1988 3: 1_suppl, S65-S67 Download Citation . 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 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. Contributed by Huda Y. Zoghbi, October 26, 2009 (received for review August 24, 2009) Article; Figures & SI; Info & Metrics; PDF; Abstract. Alan K. Percy, MD, Huda Y. Zoghbi, MD, Kay R. Lewis, MD, and Joseph Jankovic, MD. Jeffrey L. Neul and Huda Y. Zoghbi. I seguenti articoli sono uniti in Scholar. Share. Email address for updates. Huda Y. Zoghbi. Lisa A. Duvick, Lisa A. Duvick 2 Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA. When neuroscientist Huda Zoghbi first came face-to-face with Rett syndrome, she was well on her way to becoming a pediatric neurologist. and. 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. This "Cited by" count includes citations to the following articles in Scholar. Tilføj medforfattere Medforfattere. New citations to this author. F. Battaglia's present address: Department of Physiology and Pharmacology, The City University of New York Medical School, New York, NY … Upload PDF. Upload PDF. Add co-authors Co-authors. Rett syndrome (RTT) is characterized by specific motor, cognitive, and behavioral deficits. PDF Restore Delete Forever. Huda Zoghbi discovered in 1999 that its primary cause is mutation of a specific gene, MECP2. Aggiungi coautori Coautori. Beena Koshy, Beena Koshy 4 Departments of Pediatrics and Molecular and Human Genetics, Houston, TX 77030, USA. Segui questo autore. Correspondence should be addressed to Huda Y. Zoghbi, Baylor College of Medicine, Mail Stop 225, One Baylor Plaza, Houston, TX 77030. Dem, der er markeret med *, kan afvige fra artiklen i profilen. Flettede henvisninger. However, the molecular mechanism by which abnormal MeCP2 dosage causes neuronal dysfunction remains unclear. This "Cited by" count includes citations to the following articles in Scholar. New citations to this author. The authors thank Dr. Huda Zoghbi (Baylor College of Medicine, Houston, TX) for the kind gift of the conditional mouse lines. Howard Hughes Medical Institute, Baylor College of Medicine, Houston 77030, USA. Thomas J. Kwiatkowski, Jr, Huda Y. Zoghbi, Susan A. Ledbetter, Kimberly A. Ellison, A.Craig Chinault; Rapid identification of yeast artificial chromosome clone 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. This "Cited by" count includes citations to the following articles in Scholar. PubMed. Email address for updates. The Neuroscientist 2004 10: 2, 118-128 Share. Precisely how these transcription factors direct such processes is largely unknown due to the lack of bona fide targets in vivo . 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. New articles related to this author's research . 1 Citations; 212 Downloads; Abstract. Neural basic helix-loop-helix (bHLH) transcription factors are crucial in regulating the differentiation and neuronal subtype specification of neurons. If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. 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. Follow this author. Google Scholar. Google Scholar. Følg denne forfatter. Done. New articles related to this author's research . 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. Neurodegeneration is a feature of many debilitating, incurable diseases that are rapidly rising in prevalence, such as Parkinson's disease. 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