Results 41 to 50 of about 4,240 (105)

Machado Joseph disease severity is linked with gut microbiota alterations in transgenic mice

Neurobiology of Disease, 2023
Emerging evidence suggests the presence of bidirectional interactions between the central nervous system and gut microbiota that may contribute to the pathogenesis of neurodegenerative diseases.
Hasinika K.A.H. Gamage, Katherine J. Robinson, Luan Luu, Ian T. Paulsen, Angela S. Laird   +4 more
doaj   +1 more source

Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3

Arquivos de Neuro-Psiquiatria
The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of
Hélio A. G. Teive, Adriana Moro, Walter O. Arruda, Salmo Raskin, Gladys M. G. Teive, Norberto Dallabrida, Renato P. Munhoz   +6 more
doaj   +1 more source

Ubiquitin-interacting motifs of ataxin-3 regulate its polyglutamine toxicity through Hsc70-4-dependent aggregation

eLife, 2020
Spinocerebellar ataxia type 3 (SCA3) belongs to the family of polyglutamine neurodegenerations. Each disorder stems from the abnormal lengthening of a glutamine repeat in a different protein. Although caused by a similar mutation, polyglutamine disorders
Sean L Johnson, Bedri Ranxhi, Kozeta Libohova, Wei-Ling Tsou, Sokol V Todi   +4 more
doaj   +1 more source

A Novel Calpain Inhibitor Compound Has Protective Effects on a Zebrafish Model of Spinocerebellar Ataxia Type 3

Cells, 2021
Spinocerebellar ataxia type 3 (SCA3) is a hereditary ataxia caused by inheritance of a mutated form of the human ATXN3 gene containing an expanded CAG repeat region, encoding a human ataxin-3 protein with a long polyglutamine (polyQ) repeat region ...
Katherine J. Robinson, Kristy Yuan, Stuart K. Plenderleith, Maxinne Watchon, Angela S. Laird   +4 more
doaj   +1 more source

Ataxin-3 and its E3 partners: Implications for Machado-Joseph disease

Frontiers in Neurology, 2013
Machado-Joseph disease (MJD) is the most common dominant inherited ataxia worldwide, caused by an unstable CAG trinucleotide expansion mutation within the SCA3 gene resulting in an expanded polyglutamine tract within the ataxin-3 protein.
Thomas M Durcan, Edward A Fon
doaj   +1 more source

Nystagmus may be the first neurological sign in early stages of spinocerebellar ataxia type 3

Arquivos de Neuro-Psiquiatria, 2021
Background: Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant spinocerebellar ataxia worldwide. Almost all patients with SCA3 exhibit nystagmus and/or saccades impairment.
Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Thiago Junqueira Ribeiro Rezende, Pedro Braga Neto, Marcondes Cavalcante França Junior, José Luiz Pedroso, Orlando Graziani Povoas Barsottini   +6 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A

Stem Cell Research, 2018
A skin biopsy of a patient with spinocerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease (MJD)) caused by a CAG trinucleotide repeat expansion in the ATXN3 gene, was used to generate an induced pluripotent stem cell line, HIHCNi002-A ...
Stefanie Nicole Hayer, Yvonne Schelling, Jeannette Huebener-Schmid, Jonasz Jeremiasz Weber, Stefan Hauser, Ludger Schöls   +5 more
doaj   +1 more source

Brain stem and cerebellum volumetric analysis of Machado Joseph disease patients

Arquivos de Neuro-Psiquiatria, 2011
Machado-Joseph disease, or spinocerebellar ataxia type 3(MJD/SCA3), is the most frequent late onset spinocerebellar ataxia and results from a CAG repeat expansion in the ataxin-3 gene. Previous studies have found correlation between atrophy of cerebellum
S T Camargos, W Marques-Jr, A C Santos
doaj   +1 more source

A família Drew de Walworth: um século após a avaliação inicial finalmente o diagnóstico doença de Machado-Joseph The Drew family of Walworth: one century from the first evaluation until the final diagnosis, Machado-Joseph disease

Arquivos de Neuro-Psiquiatria, 2004
As enfermidades heredo-degenerativas, entre elas as ataxias cerebelares autossômicas dominantes, agora conhecidas como ataxias espinocerebelares (AEC), correspondem a extenso grupo de s com grande heterogeneidade genética.
Hélio A. Ghizoni Teive, Walter Oleschko Arruda   +1 more
doaj   +1 more source

Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report

BMC Neurology, 2011
Background Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene.
Vasconcelos João, Rizzu Patrizia, Coutinho Paula, Santos Cristina, Bettencourt Conceição, Kay Teresa, Cymbron Teresa, Raposo Mafalda, Heutink Peter, Lima Manuela   +9 more
doaj   +1 more source