Results 71 to 80 of about 71,064 (224)

Senseless makes sense for spinocerebellar ataxia-1.

, 2005
Why are some neurons selectively targeted for death in neurodegenerative diseases? A recent paper combines genetics in the fruit fly and mouse to uncover mechanisms underlying the vulnerability of Purkinje cells in spinocerebellar ataxia-1. © 2005 Nature
Tudor A Fulga, Vikram Khurana, Mel B Feany   +2 more
core   +1 more source

Structural Brain and Spinal Cord Signature of Spinocerebellar Ataxia 27B: A Multisite MRI‐Based Study

Movement Disorders, EarlyView.
Abstract Background SCA27B is a recently described ataxia, the precise anatomical basis of which remains unclear. Objective The goal was to characterize the structural brain and spinal cord magnetic resonance imaging (MRI) signature of spinocerebellar ataxia 27B (SCA27B) using multimodal quantitative imaging.
Nadson Bruno Serra Santos, Camila Caroso Lobo, Thiago Junqueira Ribeiro Rezende, Alberto Rolim Muro Martinez, Luiza A. Corazza, Luiz Eduardo Novis, Orlando Graziani Povoas Barsottini, José Luiz Pedroso, Pedro José Tomaselli, Wilson Marques Jr, Antônio Carlos dos Santos, David Pellerin, Bernard Brais, Roberta La Piana, Jemimah Harding, Penny Snell, Paul J. Lockhart, David Szmulewicz, Ian H. Harding, Marcondes Cavalcante França Jr   +19 more
wiley   +1 more source

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1)

Movement Disorders, EarlyView.
Abstract Background Association between monoallelic STUB1 variant and expanded ATXN8OS alleles was recently reported, suggesting a pathogenic interaction that may influence spinocerebellar ataxia type 48 (SCA48) phenotype. Objectives We investigated the frequency and clinical impact of ATXN8OS in a large cohort of STUB1 carriers compared to individuals
Charlotte Mouraux, Jean‐Loup Méreaux, Claire‐Sophie Davoine, Léna Guillot Noel, Emilien Petit, Quentin Thomas, Adem Nasraoui, Anna Heinzmann, Claire Ewenczyk, Alexis Brice, Alexandra Durr, Giulia Coarelli   +11 more
wiley   +1 more source

Spinocerebellar ataxia with axonal neuropathy:consequence of a Tdp1 recessive neomorphic mutation? [PDF]

, 2007
Tyrosyl-DNA phosphodiesterase 1 (Tdp1) cleaves the phosphodiester bond between a covalently stalled topoisomerase I (Topo I) and the 3' end of DNA.
Choi, Kunho, Bhattacharjee, Meenakshi B, Northrop, Jennifer L, Champoux, James J, Huang, Cheng, Salih, Mustafa A M, Takashima, Hiroshi, Arimura, Kimiyoshi, Izumo, Shuji, Interthal, Heidrun, Inoue, Ken, Armstrong, Dawna L, Hirano, Ryuki, Umehara, Fujio, Boerkoel, Cornelius F, Nakamura, Tomonori, Deguchi, Kimiko   +16 more
core   +1 more source

Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort [PDF]

, 2020
OBJECTIVE: We evaluated the prevalence of pathogenic repeat expansions in replication factor C subunit 1 (RFC1) and disabled adaptor protein 1 (DAB1) in an undiagnosed ataxia cohort from North America.
Glotzer, Giacomo, Das, Soma, Glotzer, G, Hassin-Baer, Sharon, Aboud Syriani, Dona, De Gusmao, CM, Fogel, BL, Wong, D, Andani, Sameer, De Gusmao, Claudio, Perlman, Susan, Sanyoura, May, Gomez, Christopher, Aboud Syriani, D, Mao, Y, Lockhart, PJ, Khurana, V, Wong, Darice, Khurana, Vikram, Lockhart, Paul, Fogel, Brent, Andani, S, Gomez, CM, Hassin-Baer, S, Mao, Yuanming, Sanyoura, M, Perlman, S, Das, S   +27 more
core   +1 more source

Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype

Tremor and Other Hyperkinetic Movements, 2018
Background: Spinocerebellar ataxia (SCA) is an uncommon form of progressive cerebellar ataxia with multiple genetic causes and marked variability in phenotypic expression even across patients with identical genetic abnormalities.
Christopher L. Groth, Brian D. Berman
doaj   +1 more source

TOP1MT rs2293925 is an enhancer‐active regulatory SNP that shapes mitochondrial R‐loop dynamics

The FEBS Journal, EarlyView.
This study shows how a common genetic variant of mitochondrial topoisomerase 1 (TOP1MT rs2293925) can influence mitochondrial gene regulation, DNA topology, and formation of noncanonical nucleic acid structures such as R‐loops. By linking this enhancer‐active variant to mitochondrial nucleic acid stress in cellular contexts relevant to amyotrophic ...
Dóra Varga, Zsolt Ráduly, Beáta Boros‐Oláh, Éva Nagy, Zsolt Karányi, László Halász, Bálint László Bálint, György Vámosi, Emese Tóth, Péter Bai, Serena Santangelo, Patrizia Bossolasco, Antonia Ratti, Vincent Géli, Yves Pommier, Lóránt Székvölgyi   +15 more
wiley   +1 more source

Responsiveness of different rating instruments in spinocerebellar ataxia patients.

, 2010
To determine the longitudinal metric properties of recently developed clinical assessment tools in spinocerebellar ataxia (SCA).Journal ArticleResearch Support, Non-U.S.
Klockgether, T., Filla, A, Rola, R., Depondt, C., Melegh, B., Klockgether, T, Schulz, Jörg Bernhard, Schmitz-Hübsch, T, Kremer, B, Tezenas du Montcel, S., Rola, Rafael, Montcel, S.T. du, Fimmers, R., Warrenburg, B. P.C. van de, van de Warrenburg, B P, Schmitz-Hübsch, Tanja, Zdzienicka, E., Schmitz-Hubsch, T., Labrum, R, Rakowicz, M, Linnemann, C, van de Warrenburg, B. P., Giunti, P., Mariotti, Christian, Labrum, R., Warrenburg, B.P.C. van de, Salvatore, E., Fancellu, Roberto, Infante, J, Balikó, Lazlo, Mariotti, Caterina, Baliko, L., Giunti, Paola, Rola, R, Fancellu, R., Fimmers, R, Giunti, P, Mariotti, C., Timmann, D, Schols, L., Depondt, Chantal, Melegh, Bela, Infante, J., Timmann, D., Schöls, Lüdger, Linnemann, C., Schulz, J., Rakowicz, M., Kremer, B., Filla, A., du Montcel, S Tezenas, Zdzienicka, E, du Montcel, S. T., B. Kremer, J. Schulz, P. Giunti, T. Klockgether, M. Rakowicz, C. Mariotti, B.P.C. van de Warrenburg, R. Rola, E. Salvatore, C. Depondt, D. Timmann, L. Baliko, B. Melegh, T. Schmitz-Hubsch, R. Labrum, R. Fancellu, L. Schols, S. T. du Montcel, J. Infante, C. Linnemann, R. Fimmers, A. Filla, E. Zdzienicka   +75 more
core   +1 more source

A Patient Diagnosed with Spinocerebellar Ataxia Type 5 associated with SPTBN2: Case Repor [PDF]

, 2017
Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative disorders which disrupt the afferent and efferent pathways of the cerebellum that cause cerebellar ataxia.
이진성, 고아라, 이현주, 강훈철   +3 more
core   +1 more source

Selective autophagy pathways in ageing and neurodegeneration: Emerging roles for mitophagy and nucleophagy

The FEBS Journal, EarlyView.
As we age, cells gradually accumulate damage, which can contribute to disease and neurodegeneration. This review explores how two cellular recycling processes, mitophagy and nucleophagy, remove damaged mitochondria and nuclear material, respectively, to maintain cell health and long‐term neuronal homeostasis.
Maria Markaki, Nektarios Tavernarakis
wiley   +1 more source