Results 11 to 20 of about 139,916 (258)

Repeat expansion disorders. [PDF]

Pract Neurol
An increasing number of repeat expansion disorders have been found to cause both rare and common neurological disease. This is exemplified in recent discoveries of novel repeat expansions underlying a significant proportion of several late-onset neurodegenerative disorders, such as CANVAS (cerebellar ataxia, neuropathy and vestibular areflexia syndrome)
Chen Z, Morris HR, Polke J, Wood NW, Gandhi S, Ryten M, Houlden H, Tucci A.   +7 more
europepmc   +3 more sources

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Acta Neuropathologica Communications, 2022
X-linked dystonia-parkinsonism (XDP) is a progressive adult-onset neurodegenerative disorder caused by insertion of a SINE-VNTR-Alu (SVA) retrotransposon in the TAF1 gene.
Lindsey N. Campion, Alan Meijia Maza, Rachita Yadav, Ellen B. Penney, Micaela G. Murcar, Kevin Correia, Tammy Gillis, Cara Fernandez-Cerado, M. Salvie Velasco-Andrada, G. Paul Legarda, Niecy G. Ganza-Bautista, J. Benedict B. Lagarde, Patrick J. Acuña, Trisha Multhaupt-Buell, Gabrielle Aldykiewicz, Melanie L. Supnet, Jan K. De Guzman, Criscely Go, Nutan Sharma, Edwin L. Munoz, Mark C. Ang, Cid Czarina E. Diesta, D. Cristopher Bragg, Laurie J. Ozelius, Vanessa C. Wheeler   +24 more
doaj   +1 more source

CAG Repeat Instability in the Peripheral and Central Nervous System of Transgenic Huntington’s Disease Monkeys

Biomedicines, 2022
Huntington’s Disease (HD) is an autosomal dominant disease that results in severe neurodegeneration with no cure. HD is caused by the expanded CAG trinucleotide repeat (TNR) on the Huntingtin gene (HTT). Although the somatic and germline expansion of the
In K. Cho, Faye Clever, Gordon Hong, Anthony W. S. Chan   +3 more
doaj   +1 more source

Neuronal Transcriptome from C9orf72 Repeat Expanded Human Tissue is Associated with Loss of C9orf72 Function

Free Neuropathology, 2020
A hexanucleotide G4C2 repeat expansion in C9orf72 is the most common genetic cause of familial and sporadic cases of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD). The mutation is associated with a reduction of C9orf72 protein
Elaine Y. Liu, Jenny Russ, Edward B. Lee
doaj   +1 more source

Therapeutic Development for CGG Repeat Expansion-Associated Neurodegeneration

Frontiers in Cellular Neuroscience, 2021
Non-coding repeat expansions, such as CGG, GGC, CUG, CCUG, and GGGGCC, have been shown to be involved in many human diseases, particularly neurological disorders.
Keqin Xu, Keqin Xu, Yujing Li, Emily G. Allen, Peng Jin   +4 more
doaj   +1 more source

Preclinical evaluation of WVE-004, aninvestigational stereopure oligonucleotide forthe treatment of C9orf72-associated ALS or FTD

Molecular Therapy: Nucleic Acids, 2022
A large hexanucleotide (G4C2) repeat expansion in the first intronic region of C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Yuanjing Liu, Amy Andreucci, Naoki Iwamoto, Yuan Yin, Hailin Yang, Fangjun Liu, Alexey Bulychev, Xiao Shelley Hu, Xuena Lin, Sarah Lamore, Saurabh Patil, Susovan Mohapatra, Erin Purcell-Estabrook, Kristin Taborn, Elena Dale, Chandra Vargeese   +15 more
doaj   +1 more source

Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease [PDF]

Cell
Robert E Handsaker
exaly   +2 more sources

Repeat expansions in leukoencephalopathy [PDF]

Annals of Neurology, 2019
Peer Reviewed ; https://deepblue.lib.umich.edu/bitstream/2027.42/152577/1/ana25613.pdf ; https://deepblue.lib.umich.edu/bitstream/2027.42/152577/2/ana25613_am ...
openaire   +3 more sources

A Triplet Repeat on 17q Accounts for Most Expansions Detected by the Repeat-Expansion–Detection Technique [PDF]

The American Journal of Human Genetics, 1998
We acknowledge the clinical assistance of Tom Fernandez, Paul Lee, Dr. Xavier Castellanos, Dr. Leslie Jacobson, and Dr. Sanjiv Kumra. We also thank K. Kuhns and E. Alzona for help with manuscript preparation, Azita Kashani and Barbara Stubblefield for technical assistance, and Mary LaMarca and Vuk Koprivica for assistance in preparing the figures. C.B.
Sidransky, Ellen, Burgess, Catherine, Ikeuchi, Takeshi, Lindblad, Kerstin, Long, Robert T., Philibert, Robert A., Rapoport, Judith, Schalling, Martin, Tsuji, Shoji, Ginns, Edward I.   +9 more
openaire   +2 more sources

A-overhang–dependent repeat expansion determination (ADRED)

BioTechniques, 2008
In this study we present a quick and easy method for counting trinucleotide repeats by de-oxyadenosine overhang (A-overhang)–dependent repeat expansion determination (ADRED). During standard Taq DNA polymerase–based sequencing reactions, the unterminated
Clemens Achmüller, Andrea Köhler, Sylvia Bösch, Rainer Schneider   +3 more
doaj   +1 more source