Results 121 to 130 of about 22,723 (239)

Towards a structural understanding of the fibrillization pathway in Machado-Joseph’s disease: trapping early oligomers of non-expanded ataxin-3 [PDF]

, 2005
Machado-Joseph’s disease is caused by a CAG trinucleotide repeat expansion that is translated into an abnormally long polyglutamine tract in the protein ataxin-3.
Almeida, Carla, Clarke, David T., Cortes, Luísa, Costa, Maria do Carmo, Damas, Ana Margarida, Gales, Luís, Maciel, P., Melo, Carlos V., Ribeiro, Sandra Macedo   +8 more
core   +1 more source

Targeted Molecular Therapies for SBMA [PDF]

, 2015
Spinal and bulbar muscular atrophy (SBMA) is a late-onset neuromuscular disease caused by a polyglutamine expansion in the androgen receptor gene which results in progressive spinal and bulbar motor neuron degeneration, and muscle atrophy.
Greensmith, L, Malik, B, Rinaldi, C
core   +1 more source

Caloric restriction blocks neuropathology and motor deficits in Machado–Joseph disease mouse models through SIRT1 pathway

Nature Communications, 2016
SIRTs have been reported to provide neuroprotective actions in polyglutamine diseases, and are linked to the beneficial effects of caloric restrictive diets.
Janete Cunha-Santos, Joana Duarte-Neves, Vitor Carmona, Leonard Guarente, Luís Pereira de Almeida, Cláudia Cavadas   +5 more
doaj   +1 more source

Detection of ubiquitinated huntingtin species in intracellular aggregates

Frontiers in Molecular Neuroscience, 2015
Protein conformation diseases, including polyglutamine diseases, result from the accumulation and aggregation of misfolded proteins. Huntington’s disease is one of nine diseases caused by an expanded polyglutamine repeat within the affected protein and ...
Katrin eJuenemann, Anne eWiemhoefer, Eric eReits   +2 more
doaj   +1 more source

Prion degradation pathways: Potential for therapeutic intervention [PDF]

, 2015
Prion diseases are fatal neurodegenerative disorders. Pathology is closely linked to the misfolding of native cellular PrP(C) into the disease-associated form PrP(Sc) that accumulates in the brain as disease progresses. Although treatments have yet to be
Goold, R, McKinnon, C, Tabrizi, SJ
core   +1 more source

Polyglutamine disease and neuronal cell death

Proceedings of the National Academy of Sciences, 2000
Research in the past decade has uncovered a new class of inherited neurodegenerative diseases, the polyglutamine (polyQ) expansion diseases (1). In each, the underlying mutation is an expansion of a CAG trinucleotide repeat that encodes polyQ in the respective disease proteins (Table 1).
H L, Paulson, N M, Bonini, K A, Roth
openaire   +3 more sources

Ubiquitin conjugating enzymes participate in polyglutamine protein aggregation

BMC Cell Biology, 2007
Background Protein aggregation is a hallmark of several neurodegenerative diseases including Huntington's disease and Parkinson's disease. Proteins containing long, homopolymeric stretches of glutamine are especially prone to form aggregates. It has long
Caldwell Guy A, Caldwell Kim A, Hajjar Connie, Sharma Pratima, Howard Rebecca A, du Breuil Rusla, Moore Rhonda, Boyd Lynn   +7 more
doaj   +1 more source

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3 [PDF]

, 2008
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal-dominant neurodegenerative disorder caused by a polyglutamine expansion in ataxin-3 (SCA3, MJD1) protein.
Bezprozvanny, I, Chen, X, Hammer, R, Nelson, O, Nukina, N, Pook, M, Tang, TS, Tu, H   +7 more
core   +1 more source

Modifier pathways in polyglutamine (PolyQ) diseases: from genetic screens to drug targets

, 2022
Marta D. Costa, Patrícia Maciel
openalex   +2 more sources

The Role of the Immune System in Triplet Repeat Expansion Diseases

Mediators of Inflammation, 2015
Trinucleotide repeat expansion disorders (TREDs) are a group of dominantly inherited neurological diseases caused by the expansion of unstable repeats in specific regions of the associated genes.
Marta Olejniczak, Martyna O. Urbanek, Wlodzimierz J. Krzyzosiak   +2 more
doaj   +1 more source