Results 121 to 130 of about 44,176 (282)

Generation of induced pluripotent stem cell line, CSSi004-A (2962), from a patient diagnosed with Huntington's disease at the presymptomatic stage [PDF]

, 2018
Huntington's disease (HD) is an incurable, autosomal dominant, hereditary neurodegenerative disorder that typically manifests itself in midlife. This pathology is linked to the deregulation of multiple, as yet unknown, cellular processes starting before ...
Bernardini, Laura, Bidollari, Eris, Candido, Ornella, Consoli, Federica, De Luca, Alessandro, Ferrari, Daniela, Ilari, Andrea, Lamorte, Giuseppe, Rosati, Jessica, Rotundo, Giovannina, Santimone, Iolanda, Squitieri, Ferdinando, Vescovi, Angelo Luigi   +12 more
core   +2 more sources

HTT/Huntingtin in selective autophagy and Huntington disease: A foe or a friend within? [PDF]

, 2015
Yan‐Ning Rui, Zhen Xu, Bindi Patel, Ana María Cuervo, Sheng Zhang   +4 more
openalex   +1 more source

NAADP-Evoked Ca2+ Signaling Leads to Mutant Huntingtin Aggregation and Autophagy Impairment in Murine Astrocytes [PDF]

, 2023
Cássia Arruda de Souza Pereira, Natalia de Castro Medaglia, Rodrigo Portes Ureshino, Cláudia Bincoletto, Manuela Antonioli, Gian María Fimia, Mauro Piacentini, Gustavo J.S. Pereira, Adolfo Garcia Erustes, Soraya S. Smaili   +9 more
openalex   +1 more source

HYPK‐Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features

Clinical Genetics, Volume 109, Issue 2, Page 352-355, February 2026.
We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel, Rikhil Makwana, Elaine Marchi, Ziyi Fan, Erin Falsey, Beatriz Menendez, Philip Giampietro, Ingrid M. Wentzensen, Tzung‐Chien Hsieh, Shu‐ou Shan, Gholson J. Lyon   +10 more
wiley   +1 more source

Localization and function of the Drosophila huntingtin protein [PDF]

, 2007
Thesis (S.M.)--Massachusetts Institute of Technology, Dept. of Biology, 2007."September 3, 2007."Includes bibliographical references (p. 34-40).Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder caused by an expansion of a ...
Mediatore, James D
core  

Huntingtin-associated protein 1 ameliorates neurological function rehabilitation by facilitating neurite elongation through TrKA-MAPK pathway in mice spinal cord injury [PDF]

, 2023
Miao Li, Sun Wan Qing, Tao Lu
openalex   +1 more source

TRiC’s tricks inhibit huntingtin aggregation

eLife, 2013
In Huntington’s disease, a mutated version of the huntingtin protein leads to cell death. Mutant huntingtin is known to aggregate, a process that can be inhibited by the eukaryotic chaperonin TRiC (TCP1-ring complex) in vitro and in vivo. A structural understanding of the genesis of aggregates and their modulation by cellular chaperones could ...
Sarah H Shahmoradian, Jesus G Galaz-Montoya, Michael F Schmid, Yao Cong, Boxue Ma, Christoph Spiess, Judith Frydman, Steven J Ludtke, Wah Chiu   +8 more
openaire   +3 more sources

Discovery of disrupted sustained attention and altered functional connectivity in far‐from‐onset Huntington's disease gene‐expanded young adults

Alzheimer's &Dementia, Volume 22, Issue 1, January 2026.
Abstract BACKGROUND Cognitive impairments are a hallmark of Huntington's disease (HD). METHODS Seventy‐one participants (43 HD gene‐expanded [HDGE], 28 healthy controls) from the HD‐Young Adult Study at two timepoints ≈ 4.7 years apart, completed the Cambridge Neuropsychological Test Automated Battery Rapid Visual Information Processing task and ...
Christelle Langley, Michela Leocadi, Nicola Z. Hobbs, Mena Farag, Michael J. Murphy, Kate Fayer, Rachael I. Scahill, James B. Rowe, Trevor W. Robbins, Sarah J. Tabrizi, Barbara J. Sahakian   +10 more
wiley   +1 more source

Pathogenic Huntingtin aggregates alter actin organization and cellular stiffness resulting in stalled clathrin-mediated endocytosis

eLife
Aggregation of mutant forms of Huntingtin is the underlying feature of neurodegeneration observed in Huntington’s disorder. In addition to neurons, cellular processes in non-neuronal cell types are also shown to be affected.
Surya Bansi Singh, Shatruhan Singh Rajput, Aditya Sharma, Sujal Kataria, Priyanka Dutta, Vaishnavi Ananthanarayanan, Amitabha Nandi, Shivprasad Patil, Amitabha Majumdar, Deepa Subramanyam   +9 more
doaj   +1 more source

PIAS1 Regulates Mutant Huntingtin Accumulation and Huntington’s Disease-Associated Phenotypes In Vivo [PDF]

, 2016
Joseph Ochaba, Alex Mas Monteys, Jacqueline G. O’Rourke, Jack C. Reidling, Joan S. Steffan, Beverly L. Davidson, Leslie M. Thompson   +6 more
openalex   +1 more source