Results 81 to 90 of about 91,965 (229)

Modulation of the Stress Granule Component Carhsp1 Mitigates Disease‐Associated Deficits in Spinocerebellar Ataxia Type 3 Mouse Models

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine (polyQ) neurogenerative disorder that results from CAG trinucleotide repeat expansions in the ATXN3 gene, leading to toxic protein aggregate formation and cellular pathway dysfunction.
Tiago Moreira‐Gomes, Adriana Marcelo, Ana Teresa Rajado, Rafael G. Costa, Ricardo Afonso‐Reis, Cristiana R. Madeira, Inês T. Afonso, David V.C. Brito, Adriana A. Vaz, Clévio Nóbrega   +9 more
wiley   +1 more source

Effect of Ayurvedic interventions as add-on therapy in Huntington's disease: A case report

Journal of Ayurveda Case Reports, 2022
Huntington's disease (HD) is a rare autosomal dominant neurodegenerative disorder. It is caused due to trinucleotide cytosine-adenine-guanine (CAG) repeat expansion on chromosome 4.
B Malavika, HP Savitha
doaj   +1 more source

The kabod Spring 2016 [PDF]

, 2016
Completed issue of article publications for Spring ...

core   +1 more source

Dehnel's Phenomenon in Mammals

Mammal Review, Volume 56, Issue 2, June 2026.
Some small mammals, which remain active year‐round, undergo reversible reductions in body size, braincase height, and the mass of internal organs, including the brain, from summer to winter. It is called Dehnel's phenomenon. In this review, we summarise knowledge of the mechanisms, adaptive value, and genetic basis of the phenomenon, and show how new ...
Jan R. E. Taylor, Cecilia Baldoni, Dina K. N. Dechmann   +2 more
wiley   +1 more source

2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type C

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Tarekegn Hiwot, Forbes D. Porter, Tatiana Bremova‐Ertl, Uma Ramaswami, Caroline Hastings, Bénédicte Héron, Justin Hopkin, Joella Melville, Hernan Amartino, Mireia del Toro, Federica Deodato, Fatih Ezgü, Paul Gissen, James B. Gibson, Can Ficicioglu, Roberto Giugliani, Orna Staretz‐Chacham, Frances Platt, Nathalie Guffon, Kristina Julich, Nikola Kresojević, Anna Lehman, Yann Nadjar, Susanne A. Schneider, Simon Jones, Eugen Mengel, Michel Tchan, Mark Walterfang, Ozlem Goker‐Alpan, Charlotte Dawson, Sandra Cowie, Toni Mathieson, Elizabeth Berry‐Kravis, Marc C. Patterson   +33 more
wiley   +1 more source

IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome [PDF]

, 2009
Expansion of the polyglutamine repeat within the protein Huntingtin (Htt) causes Huntington's disease, a neurodegenerative disease associated with aging and the accumulation of mutant Htt in diseased neurons.
Aiken, Ali Khoshnan, Alice L. Lau, Ana Maria Cuervo, Anne, Apostol, Arrasate, Arrasate, Ashish Massey, Atwal, Atwal, Björkqvist, Brown, Charity T. Aiken, Chen, Chondrogianni, Cornett, Cuervo, Cuervo, Cuervo, D'Orazi, Dan, Donald C. Lo, Fang, Finkbeiner, Frank M. LaFerla, Gillian Bates, Graham, Grossman, Gu, Guerrero, Gutekunst, Hasan Khashwji, Henn, Hernandez-Hernandez, Hietakangas, Hofmann, Hu, Huang, Humbert, Hunter, J. Lawrence Marsh, Jacqueline Gire O'Rourke, Jeong, Jiang, Joan S. Steffan, Karin, Karin, Katalin Illes, Kaushik, Kazantsev, Khoshnan, Khoshnan, Kim N. Green, Komatsu, Lan Huang, Leslie Michels Thompson, Linda S. Kaltenbach, Liu, Lo, Luo, Mangiarini, Marta Martinez-Vincente, Martinez-Vicente, Massey, Massey, Michael R. Hayden, Michels, Mizushima, Montserrat Arrasate, Namita Agrawal, Orr, Paul H. Patterson, Peters-Libeu, Rockabrand, Saudou, Schilling, Scott O. Zeitlin, Shao, Southwell, Steffan, Steffan, Steffan, Steven Finkbeiner, Tagwerker, Tamas Lukacsovich, Tonoki, Verma, Walker, Warby, Warby, Warby, Wu, Xia, Ya-Zhen Zhu, Yanai, Zhang, Zuccato   +97 more
core   +3 more sources

Associations Between Lifetime Stressor Exposure and Externalizing Problems in Youth at Risk for Huntington Disease

Brain and Behavior, Volume 16, Issue 4, April 2026.
This study examined lifetime stressor exposure in adolescents at genetic risk for Huntington disease (HD) compared to community controls. At‐risk participants reported significantly greater lifetime stressor exposure than controls and were more likely to report externalizing problems such as rule‐breaking behavior when exposed to stress.
Katherine E. McDonell, Shuhei Shiino, Elizabeth M. Key, Louis DeLuna, Kelly H. Watson, Bruce E. Compas, George M. Slavich, Daniel O. Claassen   +7 more
wiley   +1 more source

Protein accumulation in the endoplasmic reticulum as a non-equilibrium phase transition [PDF]

, 2014
Several neurological disorders are associated with the aggregation of aberrant proteins, often localized in intracellular organelles such as the endoplasmic reticulum.
Budrikis, Z., Costantini, G., La Porta, C. A., Zapperi, S.   +3 more
core   +3 more sources

Why we age

Biological Reviews, Volume 101, Issue 2, Page 911-925, April 2026.
ABSTRACT Three categories of explanations exist for why we age: mechanistic theories, which omit reference to evolutionary forces; weakening force of selection theories, which posit that barriers exist that prevent evolutionary forces from optimising fitness in ageing; and optimisation theories, which posit that evolutionary forces actually select for ...
Michael S. Ringel
wiley   +1 more source

Combining isotonic regression and EM algorithm to predict genetic risk under monotonicity constraint [PDF]

, 2014
In certain genetic studies, clinicians and genetic counselors are interested in estimating the cumulative risk of a disease for individuals with and without a rare deleterious mutation.
Garcia, Tanya P., Ma, Yanyuan, Marder, Karen, Qin, Jing, Tang, Ming-Xin, Wang, Yuanjia   +5 more
core   +3 more sources