Search Results - "FISCHBECK, K. H"

Spinal and bulbar muscular atrophy: pathogenesis and clinical management by Grunseich, C, Rinaldi, C, Fischbeck, KH

“…Spinal and bulbar muscular atrophy, or Kennedy's disease, is an X‐linked motor neuron disease caused by polyglutamine repeat expansion in the androgen…”
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Dominant GDAP1 mutations cause predominantly mild CMT phenotypes by ZIMON, M, BAETS, J, GUELLY, C, HUBER, N, DE VRIENDT, E, TIMMERMAN, V, SUTER, U, PETRUSEWICZ, I. Hausmanowa, NIEMANN, A, KOCHANSKI, A, DE JONGHE, P, JORDANOVA, A, FABRIZI, G. M, JAAKKOLA, E, KABZINSKA, D, PILCH, J, SCHINDLER, A. B, CORNBLATH, D. R, FISCHBECK, K. H, AUER-GRUMBACH, M

“…Ganglioside-induced differentiation associated-protein 1 (GDAP1) mutations are commonly associated with autosomal recessive Charcot-Marie-Tooth (ARCMT)…”
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SMN mRNA and protein levels in peripheral blood : Biomarkers for SMA clinical trials by SUMNER, C. J, KOLB, S. J, HARMISON, G. G, JEFFRIES, N. O, SCHADT, K, FINKEL, R. S, DREYFUSS, G, FISCHBECK, K. H

“…Clinical trials of drugs that increase SMN protein levels in vitro are currently under way in patients with spinal muscular atrophy. To develop and validate…”
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Trinucleotide repeats in neurogenetic disorders by PAULSON, H. L, FISCHBECK, K. H

“…Trinucleotide repeat expansion is increasingly recognized as a cause of neurogenetic diseases. To date, seven diseases have been identified as expanded repeat…”
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Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease by Bergoffen, J., Scherer, S. S., Wang, S., Scott, M. Oronzi, Bone, L. J., Paul, D. L., Chen, K., Lensch, M. W., Chance, P. F., Fischbeck, K. H.

“…X-linked Charcot-Marie-Tooth disease (CMTX) is a form of hereditary neuropathy with demyelination. Recently, this disorder was mapped to chromosome Xq13.1. The…”
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Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting by Verbeek, D. S., Knight, M. A., Harmison, G. G., Fischbeck, K. H., Howell, B. W.

“…The protein kinase C gamma (PKCγ) gene is mutated in spinocerebellar ataxia type 14 (SCA14). In this study, we investigated the effects of two SCA14 missense…”
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Mifepristone-inducible transgene expression in neural progenitor cells in vitro and in vivo by Hjelm, B E, Grunseich, C, Gowing, G, Avalos, P, Tian, J, Shelley, B C, Mooney, M, Narwani, K, Shi, Y, Svendsen, C N, Wolfe, J H, Fischbeck, K H, Pierson, T M

“…Numerous gene and cell therapy strategies are being developed for the treatment of neurodegenerative disorders. Many of these strategies use constitutive…”
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Kennedy disease by Fischbeck, K. H.

“…Kennedy disease is a disorder with progressive motor neuron degeneration that is caused by trinucleotide repeat expansion in the androgen receptor gene. The…”
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Cleavage, Aggregation and Toxicity of the Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy by Merry, D. E., Kobayashi, Y., Bailey, C. K., Taye, A. A., Fischbeck, K. H.

“…Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disease caused by the expansion of a polyglutamine repeat within the androgen receptor (AR)…”
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Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3 by Paulson, H.L, Perez, M.K, Trottier, Y, Trojanowski, J.Q, Subramony, S.H, Das, S.S, Vig, P, Mandel, J.-L, Fischbeck, K.H, Pittman, R.N

“…The mechanism of neurodegeneration in CAG/polyglutamine repeat expansion diseases is unknown but is thought to occur at the protein level. Here, in studies of…”
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Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19 by Meilleur, K. G., Traoré, M., Sangaré, M., Britton, A., Landouré, G., Coulibaly, S., Niaré, B., Mochel, F., La Pean, A., Rafferty, I., Watts, C., Shriner, D., Littleton-Kearney, M. T., Blackstone, C., Singleton, A., Fischbeck, K. H.

“…We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had…”
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Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease by Traoré, M., Landouré, G., Motley, W., Sangaré, M., Meilleur, K., Coulibaly, S., Traoré, S., Niaré, B., Mochel, F., La Pean, A., Vortmeyer, A., Mani, H., Fischbeck, K. H.

“…We studied a Malian family with parental consanguinity and two of eight siblings affected with late-childhood-onset progressive myoclonus epilepsy and…”
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Polyglutamine and CBP: Fatal attraction? by McCampbell, Alexander, Fischbeck, Kenneth H

“…The mutant proteins that cause polyglutamine disease bind CREB-binding protein (CBP), a key transcriptional coactivator for neuronal survival factors. This…”
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Clinical and genetic analysis of spinocerebellar ataxia in Mali by Traoré, M., Coulibaly, T., Meilleur, K. G., La Pean, A., Sangaré, M., Landouré, G., Mochel, F., Karambé, M., Guinto, C. O., Fischbeck, K. H.

“…Background:  Autosomal dominant cerebellar ataxia, currently denominated spinocerebellar ataxia (SCAs), represents a heterogeneous group of neurodegenerative…”
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The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A by Valentijn, L. J, Bolhuis, P. A, Zorn, I, Hoogendijk, J. E, van den Bosch, N, Hensels, G. W, Stanton, V. P, Housman, D. E, Fischbeck, K. H, Ross, D. A, Nicholson, G. A, Meershoek, E. J, Dauwerse, H. G, van Ommen, G. -J. B, Baas, F

“…Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a DNA duplication at chromosome 17p11.2. In view of the point mutation in the gene for…”
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Connexin32 is a myelin-related protein in the PNS and CNS by Scherer, SS, Deschenes, SM, Xu, YT, Grinspan, JB, Fischbeck, KH, Paul, DL

“…We have examined the expression of a gap junction protein, connexin32 (Cx32), in Schwann cells and oligodendrocytes. In peripheral nerve, Cx32 is found in the…”
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Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain by Paulson, H L, Das, S S, Crino, P B, Perez, M K, Patel, S C, Gotsdiner, D, Fischbeck, K H, Pittman, R N

“…Machado-Joseph disease (MJD) is one of at least six neurodegenerative diseases caused by expansion of a CAG repeat encoding a polyglutamine tract in the…”
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Nonneural Nuclear Inclusions of Androgen Receptor Protein in Spinal and Bulbar Muscular Atrophy by Li, Mei, Nakagomi, Yuji, Kobayashi, Yasushi, Merry, Dianne E., Tanaka, Fumiaki, Doyu, Manabu, Mitsuma, Terunori, Hashizume, Yoshio, Fischbeck, Kenneth H., Sobue, Gen

“…Spinal and bulbar muscular atrophy is an X-linked motor neuronopathy caused by the expansion of an unstable CAG repeat in the coding region of the androgen…”
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Triplet repeat expansion in neuromuscular disease by Lieberman, Andrew P., Fischbeck, Kenneth H.

“…Expansions of unstable trinucleotide repeats cause at least 15 inherited neurologic diseases. Here we review what has been learned of three neuromuscular…”
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Androgen Receptor YAC Transgenic Mice Carrying CAG 45 Alleles Show Trinucleotide Repeat Instability by La Spada, A. R., Peterson, K. R., Meadows, S. A., McClain, M. E., Jeng, G., Chmelar, R. S., Haugen, H. A., Chen, K., Singer, M. J., Moore, D., Trask, B. J., Fischbeck, K. H., Clegg, C. H., McKnight, G. S.

“…X-linked spinal and bulbar muscular atrophy (SBMA) is caused by a CAG repeat expansion in the first exon of the androgen receptor (AR) gene. Disease-associated…”
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