Search Results - "La Spada, A."

β-Synuclein gene alterations in dementia with Lewy bodies by OHTAKE, H, LIMPRASERT, P, TROJANOWSKI, J. Q, ISHIKAWA, A, IDEZUKA, J, MURATA, M, TODA, T, BIRD, T. D, LEVERENZ, J. B, TSUJI, S, LA SPADA, A. R, FAN, Y, ONODERA, O, KAKITA, A, TAKAHASHI, H, BONNER, L. T, TSUANG, D. W, MURRAY, I. V. J, LEE, V. M.-Y

“…To determine whether mutations in the genes for alpha-synuclein or beta-synuclein are responsible for dementia with Lewy bodies (DLB), a disorder closely…”
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Absence of disturbed axonal transport in spinal and bulbar muscular atrophy by MALI, Bilal, NIRMALANANTHAN, Niranjanan, BILSLAND, Lynsey G, LA SPADA, Albert R, HANNA, Michael G, SCHIAVO, Giampietro, GALLO, Jean-Marc, GREENSMITH, Linda

“…Spinal and bulbar muscular atrophy (SBMA), or Kennedy's disease, is a late-onset motor neuron disease (MND) caused by an abnormal expansion of the CAG repeat…”
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Chronic BMAA exposure combined with TDP-43 mutation elicits motor neuron dysfunction phenotypes in mice by Arnold, F.J., Burns, M., Chiu, Y., Carvalho, J., Nguyen, A.D., Ralph, P.C., La Spada, A.R., Bennett, C.L.

“…Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with an average age-of-onset of ∼60 years and is usually fatal within 2–5 years of…”
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Intercellular transmission of pathogenic proteins in ALS: Exploring the pathogenic wave by Arnold, F.J., Nguyen, A.D., Bedlack, R.S., Bennett, C.L., La Spada, A.R.

“…In patients with amyotrophic lateral sclerosis (ALS), disease symptoms and pathology typically spread in a predictable spatiotemporal pattern beginning at a…”
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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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Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments by Rüb, U., Brunt, E. R., Seidel, K., Gierga, K., Mooy, C. M., Kettner, M., Van Broeckhoven, C., Bechmann, I., La Spada, A. R., Schöls, L., Den Dunnen, W., De Vos, R. A. I., Deller, T.

“…Spinocerebellar ataxia type 7 (SCA7) represents a rare and severe autosomal dominantly inherited ataxic disorder and is among the known CAG‐repeat, or…”
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ALS motor phenotype heterogeneity, focality, and spread: Deconstructing motor neuron degeneration by RAVITS, John M, LA SPADA, Albert R

“…Heterogeneity of motor phenotypes is a clinically well-recognized fundamental aspect of amyotrophic lateral sclerosis (ALS) and is determined by variability of…”
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B12 Exploring the Genome-wide DNA Methylation Patterns in HD-IPS Cells during Striatal Lineage Commitment by Baronchelli, S, La Spada, A, Camnasio, S, Foti-Cuzzola, V, DeBlasio, P, Cattaneo, E, Biunno, I

“…Background The variability of Huntington’s disease phenotype could be mostly explained through the number of CAG repeats in HTT gene. However, the remaining…”
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Insights into the molecular basis of polyglutamine neurodegeneration from studies of a spinocerebellar ataxia type 7 mouse model by Grote, S K, La Spada, A R

“…Spinocerebellar ataxia type 7 (SCA7) is one member of a growing list of neurodegenerative disorders that are all caused by CAG repeat expansions that produce…”
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Sex Hormones and Risk of Liver Tumor by GIANNITRAPANI, L., SORESI, M., LA SPADA, E., CERVELLO, M., D'ALESSANDRO, N., MONTALTO, G.

“…:  The liver is morphologically and functionally modulated by sex hormones. Long‐term use of oral contraceptives (OCs) and anabolic androgenic steroids (AASs)…”
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Polyglutamine-Expanded Ataxin-7 Antagonizes CRX Function and Induces Cone-Rod Dystrophy in a Mouse Model of SCA7 by La Spada, Albert R., Fu, Ying-Hui, Sopher, Bryce L., Libby, Randell T., Wang, Xuejiao, Li, Lili Y., Einum, David D., Huang, Jing, Possin, Daniel E., Smith, Annette C., Martinez, Refugio A., Koszdin, Kari L., Treuting, Piper M., Ware, Carol B., Hurley, James B., Ptáček, Louis J., Chen, Shiming

“…Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant disorder caused by a CAG repeat expansion. To determine the mechanism of neurotoxicity, we…”
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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy by La Spada, A R, Wilson, E M, Lubahn, D B, Harding, A E, Fischbeck, K H

“…X-linked spinal and bulbar muscular atrophy (Kennedy's disease) is an adult-onset form of motorneuron disease which may be associated with signs of androgen…”
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Polyglutamine and transcription: gene expression changes shared by DRPLA and Huntington's disease mouse models reveal context-independent effects by Luthi-Carter, Ruth, Strand, Andrew D., Hanson, Sarah A., Kooperberg, Charles, Schilling, Gabriele, La Spada, Albert R., Merry, Diane E., Young, Anne B., Ross, Christopher A., Borchelt, David R., Olson, James M.

“…Recent evidence indicates that transcriptional abnormalities may play an important role in the pathophysiology of polyglutamine diseases. In the present study,…”
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Late-onset SCA2: 33 CAG repeats are sufficient to cause disease by Fernandez, M, McClain, M E, Martinez, R A, Snow, K, Lipe, H, Ravits, J, Bird, T D, La Spada, A R

“…SCA-2 is an autosomal dominant inherited disorder characterized by ataxia, slow saccades, and hyporeflexia. The authors evaluated a patient with a mild balance…”
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Trinucleotide repeat expansion in neurological disease by La Spada, A R, Paulson, H L, Fischbeck, K H

“…Expansion of trinucleotide repeats is now recognized as a major cause of neurological disease. At least seven disorders result from trinucleotide repeat…”
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Meiotic stability and genotype - phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy by La Spada, Albert R, Roling, Daniel B, Harding, Anita E, Warner, Carolyn L, Spiegel, Roland, Hausmanowa-Petrusewicz, Irena, Yee, Woon-Chee, Fischbeck, Kenneth H

“…Expansion of the trinucleotide repeat (CAG)n in the first exon of the androgen receptor gene is associated with a rare motor neuron disorder, X-linked spinal…”
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Assessing genomic stability of pluripotent stem cells: why, when, and how by Ntai, A., La Spada, A., Valle, M., Sconda, A., Carlus-Charles, H., Appierto, V.

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Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization by Chen, Shiming, Peng, Guang-Hua, Wang, Xuejiao, Smith, Annette C., Grote, Sara K., Sopher, Bryce L., La Spada, Albert R.

“…Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disorder caused by expansion of a polyglutamine tract in the ataxin-7 protein. A unique…”
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Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice by Libby, Randell T., Monckton, Darren G., Fu, Ying-Hui, Martinez, Refugio A., McAbney, John P., Lau, R., Einum, David D., Nichol, K., Ware, Carol B., Ptacek, Louis J., Pearson, Christopher E., La Spada, Albert R.

“…Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant cerebellar ataxia caused by a CAG repeat expansion in the ataxin-7 gene. In humans, SCA7 is…”
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Decrease in androgen binding and effect of androgen treatment in a case of X-linked bulbospinal neuronopathy by Danek, A, Witt, T N, Mann, K, Schweikert, H U, Romalo, G, La Spada, A R, Fischbeck, K H

“…X-linked recessive bulbospinal neuronopathy is a motoneuron disorder to be distinguished from amyotrophic lateral sclerosis, Effective treatment is not known…”
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