Results 261 to 270 of about 9,130,139 (414)

A Phenotypic Atlas for Huntington Disease Based on Data From the Enroll-HD Cohort Study. [PDF]

Neurol Genet, 2023
Langbehn DR, Sathe SS, Loy C, Sampaio C, Mccusker EA.   +4 more
europepmc   +1 more source

HLH‐30/TFEB Rewires the Chaperone Network to Promote Proteostasis Upon Perturbations to the Coenzyme A and Iron–Sulfur Cluster Biosynthesis Pathways

Aging Cell, EarlyView.
Proteostasis enhancing treatments are potential therapies for many age‐related diseases. We discovered that interference with the CoA biosynthesis pathway and limiting iron‐sulfur cluster availability improve proteostasis in C. elegans. Proteostasis improvement under these conditions depends on the conserved HLH‐30/TFEB transcription factor, which ...
Rewayd Shalash, Dror Michael Solomon, Mor Levi‐Ferber, Henrik von Chrzanowski, Mohammad Khaled Atrash, Barak Nakar, Matan Yosef Avivi, Hagit Hauschner, Aviya Swisa, Alicia Meléndez, Yaron Shav‐Tal, Sivan Henis‐Korenblit   +11 more
wiley   +1 more source

Poly ADP-ribose signaling is dysregulated in Huntington disease. [PDF]

Proc Natl Acad Sci U S A
Maiuri T, Bazan CB, Harding RJ, Begeja N, Kam TI, Byrne LM, Rodrigues FB, Warner MM, Neuman K, Mansoor M, Badiee M, Dasovich M, Wang K, Thompson LM, Leung AKL, Andres SN, Wild EJ, Dawson TM, Dawson VL, Arrowsmith CH, Truant R.   +20 more
europepmc   +1 more source

Huntington Disease

, 2006
Alice Wexler
openalex   +1 more source

Sex-dependent Effect of BAG1 in Ameliorating Motor Deficits of Huntington Disease Transgenic Mice [PDF]

, 2008
Adam L. Orr, Shanshan Huang, Meredith Roberts, John C. Reed, Shihua Li, Xiaojiang Li   +5 more
openalex   +1 more source

Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease

Proceedings of the National Academy of Sciences of the United States of America, 2013
K. Sathasivam, Andreas Neueder, T. A. Gipson, C. Landles, Agnesska C. Benjamin, Marie K Bondulich, Donna L. Smith, R. Faull, R. Roos, D. Howland, P. Detloff, D. Housman, G. Bates   +12 more
semanticscholar   +1 more source

Nuclear Import Defects Drive Cell Cycle Dysregulation in Neurodegeneration

Aging Cell, EarlyView.
Overview of Dysregulated Cell Cycle Mechanisms in Neuronal Cells. A nuclear import block drives cell cycle re‐entry from G0, culminating in cell cycle arrest at G1/S. This cell cycle arrest is associated with activation of CKIs from the INK locus (p15, p16, p18, p19) and Cip/Kip (p21, p27) which act on specific CDK/Cyclin complexes.
Jonathan Plessis‐Belair, Taylor Russo, Markus Riessland, Roger B. Sher   +3 more
wiley   +1 more source

Correction: Safety of Deutetrabenazine for the Treatment of Tardive Dyskinesia and Chorea Associated with Huntington Disease. [PDF]

Neurol Ther
Frank S, Anderson KE, Fernandez HH, Hauser RA, Claassen DO, Stamler D, Factor SA, Jimenez-Shahed J, Barkay H, Wilhelm A, Alexander JK, Chaijale N, Barash S, Savola JM, Gordon MF, Chen M.   +15 more
europepmc   +1 more source

Characterization of Huntingtin Pathologic Fragments in Human Huntington Disease, Transgenic Mice, and Cell Models

, 2007
Gabriele Schilling, Alexandra M. Klevytska, Andrew T.N. Tebbenkamp, Katrin Juenemann, Jillian K. Cooper, Victoria Gonzales, Hilda H. Slunt, Michelle Poirer, Christopher A. Ross, David Borchelt   +9 more
openalex   +1 more source

An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub‐Saharan Africa

Annals of Human Genetics, EarlyView.
Abstract Background Africans are underrepresented in Huntington's disease (HD) research. A European ancestor was postulated to have introduced the mutant Huntingtin (mHtt) gene to the continent; however, recent work has shown the existence of a unique Htt haplotype in South‐Africa specific to indigenous Africans.
Mendi J Muthinja, Carlos Othon Guelngar, Maouly Fall, Fatumah Jama, Huda Aldeen Shuja, Jamila Nambafu, Daniel Gams Massi, Oluwadamilola O. Ojo, Njideka U. Okubadejo, Funmilola Tolulope Taiwo, Alassane Mamadou Diop, Coudjou J. D. G. de Chacus, Fodé Abass Cissé, Amara Cissé, Juzar Hooker, Dilraj Sokhi, Henry Houlden, Mie Rizig   +17 more
wiley   +1 more source