Results 51 to 60 of about 19,301 (228)
PLoS ONE, 2019 The wild type huntingtin protein (Htt), supports the production of brain-derived neurotrophic factor (BDNF), a survival factor for striatal neurons, through cytoplasmic sequestering of RE-1silencing transcription factor (REST). In Huntington´s Disease an
Raúl Orozco-Díaz +3 more
doaj +1 more source
Huntingtin Regulates Mammary Stem Cell Division and Differentiation
Stem Cell Reports, 2014 Little is known about the mechanisms of mitotic spindle orientation during mammary gland morphogenesis. Here, we report the presence of huntingtin, the protein mutated in Huntington’s disease, in mouse mammary basal and luminal cells throughout ...
Salah Elias +6 more
doaj +1 more source
Huntingtin is critical both pre- and postsynaptically for long-term learning-related synaptic plasticity in Aplysia. [PDF]
PLoS ONE, 2014 Patients with Huntington's disease exhibit memory and cognitive deficits many years before manifesting motor disturbances. Similarly, several studies have shown that deficits in long-term synaptic plasticity, a cellular basis of memory formation and ...
Yun-Beom Choi +5 more
doaj +1 more source
HIP1 (huntingtin interactin protein 1) [PDF]
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011 Review on HIP1 (huntingtin interactin protein 1), with data on DNA, on the protein encoded, and where the gene is implicated.
openaire +1 more source
Journal of Huntington's Disease, 2022 Since the discovery of the mutation causing Huntington’s disease (HD) in 1993, it has been debated whether an expanded polyglutamine (polyQ) stretch affects the properties of the huntingtin (HTT) protein and thus contributes to the pathological mechanisms responsible for HD.
Seefelder, Manuel +4 more
openaire +3 more sources
Cardiac dysfunction in the R6/2 mouse model of Huntington’s disease
Neurobiology of Disease, 2007 Recent evidence suggests that mutant huntingtin protein-induced energetic perturbations contribute to neuronal dysfunction in Huntington’s disease (HD). Given the ubiquitous expression of huntingtin, other cell types with high energetic burden may be at ...
Michael J. Mihm +5 more
doaj +1 more source
DISC1 and Huntington's disease--overlapping pathways of vulnerability to neurological disorder? [PDF]
PLoS ONE, 2011 We re-annotated the interacting partners of the neuronal scaffold protein DISC1 using a knowledge-based approach that incorporated recent protein interaction data and published literature to. This revealed two highly connected networks.
Ruth Boxall +2 more
doaj +1 more source
Depletion of CBP is directly linked with cellular toxicity caused by mutant huntingtin
Neurobiology of Disease, 2006 Huntington's disease is a neurodegenerative disease caused by an expanded polyglutamine stretch within the huntingtin protein. Transfection of mutant huntingtin causes cell toxicity and depletion of CREB binding protein (CBP) or its recruitment into ...
Haibing Jiang +7 more
doaj +1 more source
Huntington disease: Advances in the understanding of its mechanisms
Clinical Parkinsonism & Related Disorders, 2020 Huntington disease (HD) is a devastating monogenic autosomal dominant disorder. HD is caused by a CAG expansion in exon 1 of the gene coding for huntingtin, placed in the short arm of chromosome 4.
Emilia M. Gatto +5 more
doaj +1 more source
Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky +8 more
wiley +1 more source