Search Results - "Zoghbi, H."

Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome by NEUL, J. L, FANG, P, BARRISH, J, LANE, J, CAEG, E. B, SMITH, E. O, ZOGHBI, H, PERCY, A, GLAZE, D. G

“…To determine if a relationship exists between the clinical features of Rett syndrome, an X-linked dominant neurodevelopmental disorder, and specific mutations…”
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Requirement of Math1 for Secretory Cell Lineage Commitment in the Mouse Intestine by Yang, Qi, Bermingham, Nessan A., Finegold, Milton J., Zoghbi, Huda Y.

“…The mouse small intestinal epithelium consists of four principal cell types deriving from one multipotent stem cell: enterocytes, goblet, enteroendocrine, and…”
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Glutamine repeats and neurodegeneration by ZOGHBI, H. Y, ORR, H. T

“…A growing number of neurodegenerative diseases have been found to result from the expansion of an unstable trinucleotide repeat. Over the past 6 years,…”
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Rett syndrome is caused by mutations in X-linked MECP2 , encoding methyl-CpG-binding protein 2 by Zoghbi, Huda Y, Amir, Ruthie E, Van den Veyver, Ignatia B, Wan, Mimi, Tran, Charles Q, Francke, Uta

“…Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder and one of the most common causes of mental retardation in females, with an…”
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TRINUCLEOTIDE REPEATS: Mechanisms and Pathophysiology by Cummings, C. J, Zoghbi, H. Y

“…Within the closing decade of the twentieth century, 14 neurological disorders were shown to result from the expansion of unstable trinucleotide repeats,…”
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Fourteen and counting: unraveling trinucleotide repeat diseases by CUMMINGS, C. J, ZOGHBI, H. Y

“…The pathological expansion of unstable trinucleotide repeats currently is known to cause 14 neurological diseases. Over the past several years, researchers…”
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Math1: An Essential Gene for the Generation of Inner Ear Hair Cells by Bermingham, Nessan A., Hassan, Bassem A., Price, Steven D., Vollrath, Melissa A., Ben-Arie, Nissim, Eatock, Ruth Anne, Bellen, Hugo J., Lysakowski, Anna, Zoghbi, Huda Y.

“…The mammalian inner ear contains the cochlea and vestibular organs, which are responsible for hearing and balance, respectively. The epithelia of these sensory…”
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Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1 by Zoghbi, Huda Y, Cummings, Christopher J, Mancini, Michael A, Antalffy, Barbara, DeFranco, Donald B, Orr, Harry T

“…Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by expansion of a polyglutamine tract in ataxin-1. In affected…”
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Proprioceptor Pathway Development Is Dependent on MATH1 by Bermingham, Nessan A., Hassan, Bassem A., Wang, Vincent Y., Fernandez, Michael, Banfi, Sandro, Bellen, Hugo J., Fritzsch, Bernd, Zoghbi, Huda Y.

“…The proprioceptive system provides continuous positional information on the limbs and body to the thalamus, cortex, pontine nucleus, and cerebellum. We showed…”
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The clinical and genetic spectrum of spinocerebellar ataxia 14 by CHEN, D.-H, CIMINO, P. J, WOLFF, J, MORGAN, C, LAU, D, FERNANDEZ, M, SASAKI, H, RASKIND, W. H, BIRD, T. D, RANUM, L. P. W, ZOGHBI, H. Y, YABE, I, SCHUT, L, MARGOLIS, R. L, LIPE, H. P, FELEKE, A, MATSUSHITA, M

“…Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C gamma gene (PRKCG), rather than a nucleotide repeat expansion…”
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Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots by Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F.M., Zoghbi, Huda Y., Schanen, N. Carolyn, Francke, Uta

“…Rett syndrome (RTT) is a neurodevelopmental disorder characterized by loss of acquired skills after a period of normal development in infant girls. The…”
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Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype by BENTON, C. S, DE SILVA, R, RUTLEDGE, S. L, BOHLEGA, S, ASHIZAWA, T, ZOGHBI, H. Y

“…To screen for the SCA-7 mutation in autosomal dominant cerebellar ataxia (ADCA) families and study genotype/phenotype correlations. The association of…”
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Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures by Orr, Harry T, Skinner, Pamela J, Koshy, Beena T, Cummings, Christopher J, Klement, Ivan A, Helin, Kara, Servadio, Antonio, Zoghbi, Huda Y

“…Spinocerebellar ataxia type 1 (SCA1) is one of several neurodegenerative disorders caused by an expansion of a polyglutamine tract. It is characterized by…”
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Targeting tau protein stability in alzheimer disease to identify novel therapeutic entry points by Lasagna-Reeves, C, Al Ramahi, I, de Haro, M, Rousseaux, M, Kim, J, Jafar-Nejad, P, Vilanova-Velez, L, Westbrook, T, Botas, J, Zoghbi, H

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Insights from mouse models into the molecular basis of neurodegeneration by Heintz, N, Zoghbi, H Y

“…Thanks largely to cloning the genes for several neurodegenerative diseases over the past decade and the existence of mouse mutants, the molecular basis of…”
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Genetic regulation of cerebellar development by Wang, Vincent Y, Zoghbi, Huda Y

“…The cerebellum is one of the first brain structures to begin to differentiate, yet it is one of the last to achieve maturity -- the cellular organization of…”
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Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome by Amir, R E, Fang, P, Yu, Z, Glaze, D G, Percy, A K, Zoghbi, H Y, Roa, B B, Van den Veyver, I B

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Functional conservation of atonal and Math1 in the CNS and PNS by Ben-Arie, N., Hassan, B. A., Bermingham, N. A., Malicki, D. M., Armstrong, D., Matzuk, M., Bellen, H. J., Zoghbi, H. Y.

“…To determine the extent to which atonal and its mouse homolog Math1 exhibit functional conservation, we inserted (beta)-galactosidase (lacZ) into the Math1…”
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Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes by Amir, Ruthie E., Van Den Veyver, Ignatia B., Schultz, Rebecca, Malicki, Denise M., Tran, Charles Q., Dahle, E. J., Philippi, Anne, Timar, László, Percy, Alan K., Motil, Kathleen J., Lichtarge, Olivier, O'Brian Smith, E., Glaze, Daniel G., Zoghbi, Huda Y.

“…We screened 71 sporadic and 7 familial Rett syndrome (RTT) patients for MECP2 mutations by direct sequencing and determined the pattern of X chromosome…”
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The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1 by Zoghbi, Huda Y, Matilla, Antoni, Koshy, Beena T, Cummings, Christopher J, Isobe, Toshiaki, Orr, Harry T

“…Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder characterized by ataxia, progressive motor deterioration, and loss of…”
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