Results 11 to 20 of about 22,723 (239)

Studying polyglutamine diseases in Drosophila [PDF]

Experimental Neurology, 2015
Polyglutamine (polyQ) diseases are a family of dominantly transmitted neurodegenerative disorders caused by an abnormal expansion of CAG trinucleotide repeats in the protein-coding regions of the respective disease-causing genes. Despite their simple genetic basis, the etiology of these diseases is far from clear.
Zhen Xu, Yan-Ning Rui, Sheng Zhang
exaly   +5 more sources

Molecular origin of polyglutamine aggregation in neurodegenerative diseases. [PDF]

PLoS Computational Biology, 2005
Expansion of polyglutamine (polyQ) tracts in proteins results in protein aggregation and is associated with cell death in at least nine neurodegenerative diseases.
Sagar D Khare, Feng Ding, Kenneth N Gwanmesia, Nikolay V Dokholyan   +3 more
doaj   +5 more sources

Stem cell models of polyglutamine diseases and their use in cell-based therapies [PDF]

Frontiers in Neuroscience, 2015
Polyglutamine diseases are fatal neurological disorders that affect the central nervous system. They are caused by mutations in disease genes that contain CAG trinucleotide expansions in their coding regions.
Evangelia eSiska, George eKoliakos, George eKoliakos, Spyros ePetrakis   +3 more
doaj   +2 more sources

Polyglutamine (PolyQ) Diseases: Genetics to Treatments [PDF]

Cell Transplantation, 2014
The polyglutamine (polyQ) diseases are a group of neurodegenerative disorders caused by expanded cytosine– adenine–guanine (CAG) repeats encoding a long polyQ tract in the respective proteins. To date, a total of nine polyQ disorders have been described:
Hueng-Chuen Fan, Li-Ing Ho, Ching-Shiang Chi, Shyi-Jou Chen, Giia-Sheun Peng, Tzu-Min Chan, Shinn-Zong Lin, Horng-Jyh Harn M.D., Ph.D.   +7 more
doaj   +3 more sources

The emerging roles of long non-coding RNAs in polyglutamine diseases. [PDF]

J Cell Mol Med, 2021
Dong X, Cong S.
europepmc   +2 more sources

Discovery of Therapeutic Approaches for Polyglutamine Diseases: A Summary of Recent Efforts [PDF]

Medicinal Research Reviews, 2017
Polyglutamine (PolyQ) diseases are a group of neurodegenerative disorders caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the coding region of specific genes.
Sara Duarte-Silva, Patricia Maciel
exaly   +3 more sources

Editorial: The role of posttranslational modifications in polyglutamine diseases [PDF]

Frontiers in Molecular Neuroscience, 2023
Jonasz Jeremiasz Weber, Jonasz Jeremiasz Weber, Maria do Carmo Costa, K. Matthew Scaglione, Sokol V. Todi, Huu Phuc Nguyen   +5 more
doaj   +2 more sources

Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of <i>HTT</i> associated with an early disease onset in <i>C9orf72</i> carriers. [PDF]

Brain Commun
Barbier M, Gareau T, Camuzat A, Guillaud-Bataille M, Boluda S, Clot F, Araktingi L, Borroni B, van der Zee J, Ghidoni R, Bellini S, Galimberti D, Rossi G, Nacmias B, De la Casa-Fages B, Pastor P, French Clinical and Genetic Research Network on FTD/FTD-ALS and PrevDemALS Study Groups , Latouche M, le Guern E, Durr A, Laquerrière A, Moccia R, Seilhean D, Alvarez V, Le Ber I.   +24 more
europepmc   +3 more sources

Polyglutamine disease in peripheral tissues [PDF]

Human Molecular Genetics, 2023
Abstract This year is a milestone anniversary of the discovery that Huntington’s disease is caused by the presence of expanded polyglutamine repeats in the huntingtin gene leading to the formation of huntingtin aggregates. 30 years have elapsed and there is still no cure and the only FDA-approved treatment to alleviate the debilitating ...
Taylor Barwell, Laurent Seroude
openalex   +4 more sources

A brain-targeting lipidated peptide for neutralizing RNA-mediated toxicity in Polyglutamine Diseases. [PDF]

Sci Rep, 2017
Zhang Q, Yang M, Sørensen KK, Madsen CS, Boesen JT, An Y, Peng SH, Wei Y, Wang Q, Jensen KJ, Zuo Z, Chan HYE, Ngo JCK.   +12 more
europepmc   +3 more sources