Results 71 to 80 of about 13,262,735 (197)
TDP‐43 Aggregation: The Healthy‐Toxic Balance of the Prion‐Like Domain
Advanced Science, EarlyView.TDP‐43 function relies on a delicate balance between reversible phase‐separated states and irreversible aggregation. Under physiological conditions, TDP‐43 forms dynamic droplets and oligomers that support normal cellular functions. In pathological contexts, this balance shifts toward aberrant aggregation, leading to toxic species.
Luca Zangrando +2 more
wiley +1 more source
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 +4 more
doaj +1 more source
A Severity‐Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA‐Ataxia
Movement Disorders, EarlyView.Background Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited neurodegenerative disease characterized by progressive loss of motor coordination. Objectives We undertook a multisite magnetic resonance imaging study to profile the spatial spread of atrophy across the brain, determine whether atrophy preferentially maps onto specific functional ...
Jason W. Robertson +43 more
wiley +1 more source
2UIM ataxin-3 is more prone to aggregate than 3UIM ataxin-3.
, 2013 (A) Representative immunofluorescence of Cos7 cells transiently expressing Flag-tagged ataxin-3(Q22) splice isoforms or the UIM3(SA/DG) mutant. Cells were gated by fluorescence intensity into populations of moderate and high expressors.
Katerina Dodelzon (360474) +4 more
core +1 more source
Structural insights into the activity and regulation of human Josephin-2
Journal of Structural Biology: X, 2019 The MJD family of human deubiquitinating enzymes contains four members: Ataxin-3, the ataxin-3-like protein (AT3L), Josephin-1, and Josephin-2. All share a conserved catalytic unit known as the Josephin domain.
Kimberly C. Grasty +2 more
doaj +1 more source
A comprehensive review of cancer‐induced cardiac wasting
British Journal of Pharmacology, EarlyView.Cancer is frequently accompanied by cachexia, a systemic syndrome characterized by progressive loss of skeletal muscle mass, with or without loss of fat mass. Increasing evidence indicates that cancer can also induce cardiac muscle wasting, which is associated with structural cardiac remodelling, impaired contractile function and the development of ...
Alessia Lena +5 more
wiley +1 more source
Identification of the SUMO-1 modification sites in ataxin-3.
, 2013 (A) HEK293 cells were used to co-express ataxin-3, ataxin-3K8R, ataxin-3K166R, or ataxin-3K206R with SUMO-1. 10% lysates were precipitated by TCA and subjected to immunoblotting.
Kun Xia (9853) +11 more
core +1 more source
Dual IRE1 targets: Determinants of the cell fate?
The FEBS Journal, EarlyView.IRE1 is an ER stress sensor that restores protein homeostasis through two signaling activities: XBP1s, which upregulates its target gene expression or RIDD which downregulates its target transcripts. We recently identified Dual IRE1 Targets (DIT) which are modulated by both XBP1s and RIDD activities.
Eva Billat +3 more
wiley +1 more source
, 2012 Expansions of the polyglutamine (polyQ) domain (≥34) in Ataxin-2 (ATXN2) are the primary cause of spinocerebellar ataxia type 2 (SCA2). Recent studies reported that intermediate-length (27–33) expansions increase the risk of Amyotrophic Lateral Sclerosis
Hilmi Özçelik (5648923) +35 more
core +1 more source
Allele-specific RNA silencing of mutant ataxin-3 mediates neuroprotection in a rat model of Machado-Joseph disease. [PDF]
PLoS ONE, 2008 Recent studies have demonstrated that RNAi is a promising approach for treating autosomal dominant disorders. However, discrimination between wild-type and mutant transcripts is essential, to preserve wild-type expression and function.
Sandro Alves +9 more
doaj +1 more source