huda zoghbi google scholar

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