Triplet Repeat Disorders

Triplet Repeat Disorders are genetic disorders that occur as a result of expansion of trinucleotide repeats in certain genes. Examples include Huntington’s disease, certain types of spinocerebellar ataxia, and Fragile X syndrome, among others. Here is the latest research.

October 26, 2021
Open Access

Gaboxadol in Fragile X Syndrome: A 12-Week Randomized, Double-Blind, Parallel-Group, Phase 2a Study.

Frontiers in Pharmacology
Dejan B BudimirovicElizabeth Berry-Kravis
October 22, 2021
Open Access

Restarted replication forks are error-prone and cause CAG repeat expansions and contractions.

PLoS Genetics
Michaela A GoldCatherine H Freudenreich
October 24, 2021
Open Access

FMRP Levels in Human Peripheral Blood Leukocytes Correlates with Intellectual Disability.

Diagnostics
Mark RothFlora Tassone
October 24, 2021

Esculetin Provides Neuroprotection against Mutant Huntingtin-Induced Toxicity in Huntington's Disease Models.

Pharmaceuticals
Letizia PruccoliAndrea Tarozzi
October 21, 2021
Preprint
Open Access

REViewer: Haplotype-resolved visualization of read alignments in and around tandem repeats

BioRxiv : the Preprint Server for Biology
E. DolzhenkoMichael A Eberle
October 19, 2021
Open Access

The MID1 Protein: A Promising Therapeutic Target in Huntington's Disease.

Frontiers in Genetics
Annika HeinzSybille Krauß
October 20, 2021
Preprint
Open Access

Identification of novel therapeutic targets for polyglutamine toxicity disorders that target mitochondrial fragmentation

BioRxiv : the Preprint Server for Biology
Annika TraaJeremy M Van Raamsdonk
October 17, 2021
Review

Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy.

Neurobiology of Disease
Thiéry De Serres-BérardJack Puymirat
October 15, 2021
Open Access

Global Rhes knockout in the Q175 Huntington's disease mouse model.

PloS One
Taneli HeikkinenDeanna M Marchionini
October 14, 2021

TCF4 trinucleotide repeat expansion in Swedish cases with Fuchs' endothelial corneal dystrophy.

Acta Ophthalmologica
Andreas VibergBerit Byström
October 13, 2021

Neuroinflammation in the Cerebellum and Brainstem in Friedreich Ataxia: An [18 F]-FEMPA PET Study.

Movement Disorders : Official Journal of the Movement Disorder Society
Wasim KhanIan H Harding
October 13, 2021
Case Report
Open Access

FXTAS is difficult to differentiate from neuronal intranuclear inclusion disease through skin biopsy: a case report.

BMC Neurology
Megumi TokoHirofumi Maruyama
October 13, 2021
Open Access

Relationships between Mitochondrial Function, AMPK, and TORC1 Signaling in Lymphoblasts with Premutation Alleles of the FMR1 Gene.

International Journal of Molecular Sciences
Paul FisherSarah J Annesley
October 11, 2021

Targeting Mitochondrial Network Disorganization is Protective in C. elegans Models of Huntington's Disease.

Aging and Disease
Emily MachielaJeremy M Van Raamsdonk
September 29, 2021
Preprint
Open Access

Expansion of 5' UTR CGG repeat in RILPL1 is associated with oculopharyngodistal myopathy

MedRxiv : the Preprint Server for Health Sciences
X.-Z. YangYi Dai
September 29, 2021
Review
Open Access

Oxidative Stress and Neurodegeneration: Interconnected Processes in PolyQ Diseases.

Antioxidants
Ioannis GkekasSpyros Petrakis

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