Results 31 to 40 of about 18,313 (210)

Inhibition of mitochondrial protein import by mutant huntingtin [PDF]

Nature Neuroscience, 2014
Mitochondrial dysfunction is associated with neuronal loss in Huntington's disease (HD), a neurodegenerative disease caused by an abnormal polyglutamine expansion in huntingtin (Htt). However, the mechanisms linking mutant Htt and mitochondrial dysfunction in HD remain unknown.
Sergei V. Baranov, Oxana V. Baranova, Robert J. Ferrante, Yanchun Pan, Robert M. Friedlander, Diane L. Carlisle, Jinho Kim, Albert H. Kim, Hiroko Yano, Svitlana Yablonska   +9 more
openaire   +3 more sources

Alterations in mRNA 3′ UTR Isoform Abundance Accompany Gene Expression Changes in Human Huntington’s Disease Brains

Cell Reports, 2017
The huntingtin gene has two mRNA isoforms that differ in their 3′ UTR length. The relationship of these isoforms with Huntington’s disease is not established.
Lindsay Romo, Ami Ashar-Patel, Edith Pfister, Neil Aronin   +3 more
doaj   +1 more source

HDAC4 reduction: a novel therapeutic strategy to target cytoplasmic huntingtin and ameliorate neurodegeneration. [PDF]

PLoS Biology, 2013
Histone deacetylase (HDAC) 4 is a transcriptional repressor that contains a glutamine-rich domain. We hypothesised that it may be involved in the molecular pathogenesis of Huntington's disease (HD), a protein-folding neurodegenerative disorder caused by ...
Michal Mielcarek, Christian Landles, Andreas Weiss, Amyaouch Bradaia, Tamara Seredenina, Linda Inuabasi, Georgina F Osborne, Kristian Wadel, Chrystelle Touller, Rachel Butler, Janette Robertson, Sophie A Franklin, Donna L Smith, Larry Park, Paul A Marks, Erich E Wanker, Eric N Olson, Ruth Luthi-Carter, Herman van der Putten, Vahri Beaumont, Gillian P Bates   +20 more
doaj   +1 more source

Forms and Phases in Huntingtin Protein Aggregation [PDF]

Molecular Cell, 2018
Using a combination of fluorescence microscopy and electron tomography, Peskett et al. (2018), in this issue of Molecular Cell, explore the nucleation of amyloid-like filaments from liquid-like condensates of huntingtin protein exon1 with disease-related polyQ extensions.
openaire   +2 more sources

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, Beena M Kadakkuzha, Xin-An Liu, Komolitdin Akhmedov, Eric R Kandel, Sathyanarayanan V Puthanveettil   +5 more
doaj   +1 more source

Brain-Derived Neurotrophic Factor Dysregulation as an Essential Pathological Feature in Huntington’s Disease: Mechanisms and Potential Therapeutics

Biomedicines, 2023
Brain-derived neurotrophic factor (BDNF) is a major neurotrophin whose loss or interruption is well established to have numerous intersections with the pathogenesis of progressive neurological disorders.
Andrew Speidell, Noman Bin Abid, Hiroko Yano   +2 more
doaj   +1 more source

Huntingtin and Its Partner Huntingtin-Associated Protein 40: Structural and Functional Considerations in Health and Disease

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, Klein, Fabrice A.C., Landwehrmeyer, Bernhard, Fernández Busnadiego, Rubén, Kochanek, Stefan   +4 more
openaire   +3 more sources

Huntingtin’s spherical solenoid structure enables polyglutamine tract-dependent modulation of its structure and function

eLife, 2016
The polyglutamine expansion in huntingtin protein causes Huntington’s disease. Here, we investigated structural and biochemical properties of huntingtin and the effect of the polyglutamine expansion using various biophysical experiments including ...
Ravi Vijayvargia, Raquel Epand, Alexander Leitner, Tae-Yang Jung, Baehyun Shin, Roy Jung, Alejandro Lloret, Randy Singh Atwal, Hyeongseok Lee, Jong-Min Lee, Ruedi Aebersold, Hans Hebert, Ji-Joon Song, Ihn Sik Seong   +13 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, Morgane S. Thion, Hua Yu, Cristovao Marques Sousa, Charlène Lasgi, Xavier Morin, Sandrine Humbert   +6 more
doaj   +1 more source

No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington’s disease

Acta Neuropathologica Communications, 2020
Prominent features of HD neuropathology are the intranuclear and cytoplasmic inclusions of huntingtin and striatal and cortical neuronal cell death.
Ting-Ting Huang, Ruben Smith, Karl Bacos, Dong-Yan Song, Richard M. Faull, Henry J. Waldvogel, Jia-Yi Li   +6 more
doaj   +1 more source