Google Scholar. 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. Carica PDF. E-mail: hzoghbi{at}bcm.tmc.edu. This "Cited by" count includes citations to the following articles in Scholar. Google Scholar. Deres samlede henvisninger tæller kun for den første artikel. Upload PDF. J Mol Med (Berl) 81: 61–68 [Google Scholar] Chahrour M, Zoghbi HY 2007. 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. Beena Koshy, Beena Koshy 4 Departments of Pediatrics and Molecular and Human Genetics, Houston, TX 77030, USA. MEDICINE Some of the dramatic neurological problems of Rett syndrome can be reversed in an experimental mouse model, researchers have found. Følgende artikler er flettet i Scholar. Social Media; Email; Share Access; Share this article via social media. Department of Molecular and Human Genetics , Baylor College of Medicine, Houston 77030, USA. Upload PDF. Nat Genet 23: 185–188 [Google Scholar] Balmer D, Goldstine J, Rao YM, LaSalle JM 2003. Follow this author. The transcription factor Atoh1 has been suspected to contribute to GNP proliferation, but its role in normal and neoplastic postnatal cerebellar development remains unexplored. New articles by this author. Share. The ones marked * may be different from the article in the profile. Rett syndrome (RTT) is characterized by specific motor, cognitive, and behavioral deficits. Precisely how these transcription factors direct such processes is largely unknown due to the lack of bona fide targets in vivo . There is an urgent need to develop new and more effective therapeutic strategies to combat these devastating diseases. Simply select your manager software from the list below and click on download. Neural basic helix-loop-helix (bHLH) transcription factors are crucial in regulating the differentiation and neuronal subtype specification of neurons. In this study, we developed a conditional SCA1 mouse model to examine whether stopping expression of mutant ataxin-1 alters the disease phenotype. When this gene is absent in mice, they display neurological symptoms similar to Rett syndrome. New citations to this author. PDF Restore Delete Forever. Dem, der er markeret med *, kan afvige fra artiklen i profilen. PDF Ripristina Elimina per sempre. This "Cited by" count includes citations to the following articles in Scholar. New citations to this author. PubMed. Tilføj medforfattere Medforfattere. Howard Hughes Medical Institute, Baylor College of Medicine, Houston 77030, USA. Email address for updates. Citazioni unite. When neuroscientist Huda Zoghbi first came face-to-face with Rett syndrome, she was well on her way to becoming a pediatric neurologist. This "Cited by" count includes citations to the following articles in Scholar. Spinocerebellar ataxia type 1 (SCA1) is a fatal neurodegenerative disease caused by an abnormal expansion of CAG repeats in the Ataxin1 (ATXN1) gene. New articles related to this author's research. Jeehye Park, Jeehye Park 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. 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. 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. Lisa A. Duvick, Lisa A. Duvick 2 Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA. Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder caused by CAG repeat expansions within the voltage-gated calcium (CaV) 2.1 channel gene. 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, New articles related to this author's research . Done. and. The authors thank Dr. Huda Zoghbi (Baylor College of Medicine, Houston, TX) for the kind gift of the conditional mouse lines. Add co-authors Co-authors. Follow this author. Flettede henvisninger. Done. Done. Segui questo autore. Follow this author. 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 Huda Y. Zoghbi. Upload PDF. Restoration of the absent gene reverses the neurological disorder. Huda Y. Zoghbi * 1. Search for other works by this author on: Oxford Academic. New articles by this author. Jeffrey L. Neul and Huda Y. Zoghbi. 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. Journal of Child Neurology 1988 3: 1_suppl, S65-S67 Download Citation . New articles related to this author's research . Upload PDF. Correspondence should be addressed to Huda Y. Zoghbi, Baylor College of Medicine, Mail Stop 225, One Baylor Plaza, Houston, TX 77030. PDF Restore Delete Forever. Search for other works by this author on: … Thomas J. Kwiatkowski, Jr, Huda Y. Zoghbi, Susan A. Ledbetter, Kimberly A. Ellison, A.Craig Chinault; Rapid identification of yeast artificial chromosome clone PDF Gendan Slet for evigt. 2 Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, Houston, Texas 77030, USA. The Neuroscientist 2004 10: 2, 118-128 Share. Questo conteggio "Citato da" include citazioni ai seguenti articoli in Scholar. If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. 4. Huda Y. Zoghbi; Chapter. F. Battaglia's present address: Department of Physiology and Pharmacology, The City University of New York Medical School, New York, NY … Department of Neuroscience, 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. Add co-authors Co-authors. 3. 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. 2. 1 Citations; 212 Downloads; Abstract. 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. The ones marked * may be different from the article in the profile. Neurodegeneration is a feature of many debilitating, incurable diseases that are rapidly rising in prevalence, such as Parkinson's disease. The ones marked * may be different from the article in the profile. 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. Google Scholar. New citations to this author. Contributed by Huda Y. Zoghbi, October 26, 2009 (received for review August 24, 2009) Article; Figures & SI; Info & Metrics; PDF; Abstract. SCA1 is characterized by motor deficits, cerebellar neurodegeneration, and gliosis and gene expression changes. Huda Zoghbi discovered in 1999 that its primary cause is mutation of a specific gene, MECP2. Google Scholar. Google Scholar. 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. 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. Add co-authors Co-authors. Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation. 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. 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. However, the molecular mechanism by which abnormal MeCP2 dosage causes neuronal dysfunction remains unclear. 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. Neuronal dysfunction remains unclear factors direct such processes is largely unknown due to the following articles in Scholar markeret! 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