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.

July 1, 2020

Hereditary spastic paraplegia type 11 (SPG11) is associated with obesity and hypothalamic damage

Journal of the Neurological Sciences
Ana Luisa de Carvalho Cardozo-HernándezMarcondes Cavalcante França
July 1, 2020

Histopathological and genetical diagnosis of one case of neonatal ectodermal dysplasia/skin fragility syndrome

Zhonghua shao shang za zhi = Zhonghua shaoshang zazhi = Chinese journal of burns
Q F RuanW G Xie
July 4, 2020
Preprint
Open Access

CRISPR/Cas9-based silencing of the ATXN1 gene in Spinocerebellar ataxia type 1 (SCA1) fibroblasts

BioRxiv : the Preprint Server for Biology
F. SalvatoriPeggy Marconi
June 27, 2020
Review
Open Access

MAP/ERK Signaling in Developing Cognitive and Emotional Function and Its Effect on Pathological and Neurodegenerative Processes

International Journal of Molecular Sciences
Héctor Albert-GascóFrancisco E Olucha-Bordonau
July 7, 2020

Peptidyl inhibition of Spt4-Spt5: Protein-protein inhibitors for targeting the transcriptional pathway related to C9orf72 expansion repeats

Journal of Cellular Biochemistry
Alexey RayevskyDmitriy Volochnyuk
July 7, 2020
Open Access

Reduced Fractalkine Levels Lead to Striatal Synaptic Plasticity Deficits in Huntington's Disease

Frontiers in Cellular Neuroscience
Anya KimManuel J Rodríguez
July 2, 2020
Open Access

Examining the Specificity of Forms and Functions of Aggressive Behavior in Boys With Fragile X Syndrome

American Journal on Intellectual and Developmental Disabilities
Tobias C BrittonScott S Hall
July 1, 2020
Open Access

Folate stress induces SLX1- and RAD51-dependent mitotic DNA synthesis at the fragile X locus in human cells

Proceedings of the National Academy of Sciences of the United States of America
Lorenza GarribbaYing Liu
July 1, 2020

Striatal connectivity in premanifest Huntington disease is differentially affected by disease burden

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
Lorenzo PiniCharlotte Jacquemot
July 1, 2020

Huntingtons disease: A new evidence of neurovascular dysfunction

Journal of the Neurological Sciences
Claudio Campa
July 1, 2020
Review

The contribution of glial cells to Huntington's disease pathogenesis

Neurobiology of Disease
Daniel K Wilton, Beth Stevens
July 3, 2020
Open Access

Validation Study of a German Cognitive Battery for Huntington's Disease: Relationship Between Cognitive Performance, Functional Decline, and Disease Burden

Archives of Clinical Neuropsychology : the Official Journal of the National Academy of Neuropsychologists
Alžbeta MühlbäckJiří Klempíř

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