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