Simply select your manager software from the list below and click on download. Search for other works by this author on: Oxford Academic. Antallet under "Citeret af" inkluderer henvisninger fra følgende artikler i Scholar. Lisa A. Duvick, Lisa A. Duvick 2 Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA. 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. If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Beena Koshy, Beena Koshy 4 Departments of Pediatrics and Molecular and Human Genetics, Houston, TX 77030, USA. The authors thank Dr. Huda Zoghbi (Baylor College of Medicine, Houston, TX) for the kind gift of the conditional mouse lines. Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. PDF Gendan Slet for evigt. 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. New articles by this author . Done. Correspondence should be addressed to Huda Y. Zoghbi, Baylor College of Medicine, Mail Stop 225, One Baylor Plaza, Houston, TX 77030. Huda Zoghbi discovered in 1999 that its primary cause is mutation of a specific gene, MECP2. New articles by this author. Neural basic helix-loop-helix (bHLH) transcription factors are crucial in regulating the differentiation and neuronal subtype specification of neurons. Add co-authors Co-authors. 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 Restoration of the absent gene reverses the neurological disorder. Google Scholar. Done. 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. Upload PDF. PubMed. The ones marked * may be different from the article in the profile. 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. Follow this author. Aggiungi coautori Coautori. Citazioni unite. Le loro citazioni combinate sono conteggiate solo per il primo articolo. Upload PDF. Jeffrey L. Neul and Huda Y. Zoghbi. J Mol Med (Berl) 81: 61–68 [Google Scholar] Chahrour M, Zoghbi HY 2007. Google Scholar. Questo conteggio "Citato da" include citazioni ai seguenti articoli in Scholar. New citations to this author. The e-mail addresses that you supply to use this service will not be used for any other purpose without your consent. Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder caused by CAG repeat expansions within the voltage-gated calcium (CaV) 2.1 channel gene. Email address for updates. Contributed by Huda Y. Zoghbi, October 26, 2009 (received for review August 24, 2009) Article; Figures & SI; Info & Metrics; PDF; Abstract. E-mail: hzoghbi{at}bcm.tmc.edu. 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. 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. New citations to this author. 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. MEDICINE Some of the dramatic neurological problems of Rett syndrome can be reversed in an experimental mouse model, researchers have found. Howard Hughes Medical Institute, Baylor College of Medicine, Houston 77030, USA. Deres samlede henvisninger tæller kun for den første artikel. When this gene is absent in mice, they display neurological symptoms similar to Rett syndrome. Følg denne forfatter. 2. Dem, der er markeret med *, kan afvige fra artiklen i profilen. Google Scholar. 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. I seguenti articoli sono uniti in Scholar. Search for other works by this author on: Oxford Academic. Search for other works by this author on: … Rett syndrome (RTT) is characterized by specific motor, cognitive, and behavioral deficits. Follow this author. Journal of Child Neurology 1988 3: 1_suppl, S65-S67 Download Citation . The ones marked * may be different from the article in the profile. Tilføj medforfattere Medforfattere. 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. Thomas J. Kwiatkowski, Jr, Huda Y. Zoghbi, Susan A. Ledbetter, Kimberly A. Ellison, A.Craig Chinault; Rapid identification of yeast artificial chromosome clone Precisely how these transcription factors direct such processes is largely unknown due to the lack of bona fide targets in vivo . Department of Molecular and Human Genetics , Baylor College of Medicine, Houston 77030, USA. 4. and. Share. Done. Upload PDF. PDF Restore Delete Forever. Flettede henvisninger. This "Cited by" count includes citations to the following articles in Scholar. Social Media; Email; Share Access; Share this article via social media. Department of Neuroscience, Baylor College of Medicine, Houston 77030, USA. 1 Citations; 212 Downloads; Abstract. Email address for updates. Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodegenerative disease caused by an abnormal expansion of CAG repeats in the Ataxin1 (ATXN1) gene. Add co-authors Co-authors. New articles related to this author's research. Huda Y. Zoghbi * 1. 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. Email address for updates. This "Cited by" count includes citations to the following articles 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, Nature 389: 974–978 [Google Scholar] Opal P, Zoghbi HY (2002) The role of chaperones in polyglutamine disease. Segui questo autore. PDF Restore Delete Forever. Neurodegeneration is a feature of many debilitating, incurable diseases that are rapidly rising in prevalence, such as Parkinson's disease. New citations to 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. Jeehye Park, Jeehye Park 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. SCA1 is characterized by motor deficits, cerebellar neurodegeneration, and gliosis and gene expression changes. Carica PDF. There is an urgent need to develop new and more effective therapeutic strategies to combat these devastating diseases. PDF Restore Delete Forever. Huda Y. Zoghbi; Chapter. 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. Follow this author. 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. Add co-authors Co-authors. 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. Upload PDF. F. Battaglia's present address: Department of Physiology and Pharmacology, The City University of New York Medical School, New York, NY … The Neuroscientist 2004 10: 2, 118-128 Share. Dr. Huda Y. Zoghbi is a professor in the Departments of Pediatrics, Molecular and Human Genetics, Neurology and Neuroscience at Baylor College of Medicine. The transcription factor Atoh1 has been suspected to contribute to GNP proliferation, but its role in normal and neoplastic postnatal cerebellar development remains unexplored. 2 Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, Houston, Texas 77030, USA. In this study, we developed a conditional SCA1 mouse model to examine whether stopping expression of mutant ataxin-1 alters the disease phenotype. PubMed. Huda Y. Zoghbi. Google Scholar. New articles related to this author's research . 3. PDF Ripristina Elimina per sempre. This "Cited by" count includes citations to the following articles in Scholar. Google Scholar. Alan K. Percy, MD, Huda Y. Zoghbi, MD, Kay R. Lewis, MD, and Joseph Jankovic, MD. The ones marked * may be different from the article in the profile. Quelli contrassegnati con * possono essere diversi dall'articolo nel profilo. Nat Genet 23: 185–188 [Google Scholar] Balmer D, Goldstine J, Rao YM, LaSalle JM 2003. However, the molecular mechanism by which abnormal MeCP2 dosage causes neuronal dysfunction remains unclear. New articles related to this author's research . 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. New articles by this author. Some of the dramatic neurological problems of Rett syndrome, kan afvige fra i... Type 1 of Rett syndrome ( RTT ) is characterized by specific,! Need to develop new and more effective therapeutic strategies to combat these devastating diseases postnatal Human brain development and correlated... Following articles in Scholar and more effective therapeutic strategies to combat these devastating diseases 81: 61–68 Google... This gene is absent in mice, they display neurological symptoms similar to Rett syndrome af '' henvisninger... Polyglutamine disease, Rao YM, LaSalle JM 2003 used for any other without... 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