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Triplet Repeat Disorders

Triplet Repeat Disorders diagram by Arpita Tawani, Amit Kumar
Arpita Tawani, Amit Kumar

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.

Top 20 most recent papers
bioRxiv

Modulation of dopamine D1 receptors via histamine H3 receptors is a novel therapeutic target for Huntington's disease

bioRxivNovember 11, 2019
Peter J McCormickLesley Howell
7
bioRxiv

Atxn2-CAG100-KnockIn mouse spinal cord shows progressive TDP43 pathology associated with cholesterol biosynthesis suppression

bioRxivNovember 11, 2019
Júlia Canet-PonsGeorg W J Auburger
3
The EMBO Journal

RNA toxicity in non-coding repeat expansion disorders

The EMBO JournalNovember 13, 2019
Bart SwinnenLudo Van Den Bosch
Movement Disorders : Official Journal of the Movement Disorder Society

HDQLIFE and Neuro-QoL Physical Function Measures: Responsiveness in Persons With Huntington's Disease

Movement Disorders : Official Journal of the Movement Disorder SocietyNovember 14, 2019
Noelle E CarlozziPraveen Dayalu
Physical Review Letters

Shear-Jammed, Fragile, and Steady States in Homogeneously Strained Granular Materials

Physical Review LettersOctober 11, 2019
Yiqiu ZhaoRobert P Behringer
Annals of Neurology

Early intrathecal T helper 17.1 cell activity in Huntington's disease

Annals of NeurologyNovember 14, 2019
Marina Rode von EssenFinn Thorup Sellebjerg
Epigenetics & Chromatin

Chromatin accessibility and transcription dynamics during in vitro astrocyte differentiation of Huntington's Disease Monkey pluripotent stem cells

Epigenetics & ChromatinNovember 13, 2019
Alexandra V GoodnightAnthony Wing Sang Chan
Movement Disorders : Official Journal of the Movement Disorder Society

Association Between Toll-Like Receptor 4 (TLR4) and Triggering Receptor Expressed on Myeloid Cells 2 (TREM2) Genetic Variants and Clinical Progression of Huntington's Disease

Movement Disorders : Official Journal of the Movement Disorder SocietyNovember 14, 2019
Romina VuonoJanelle Drouin-Ouellet
bioRxiv

Novel patterns of complex structural variation revealed across thousands of cancer genome graphs

bioRxivNovember 9, 2019
Kevin HadiMarcin B Imielinski
146
International Journal of Molecular Sciences

Juvenile Huntington's Disease Skin Fibroblasts Respond with Elevated Parkin Level and Increased Proteasome Activity as a Potential Mechanism to Counterbalance the Pathological Consequences of Mutant Huntingtin Protein

International Journal of Molecular SciencesOctober 26, 2019
Azzam AladdinKrisztina Tar
Current Neurology and Neuroscience Reports

Music Therapy and Music-Based Interventions for Movement Disorders

Current Neurology and Neuroscience ReportsNovember 13, 2019
Kerry DevlinAlexander Pantelyat
Blood Advances

Human models of NUP98-KDM5A megakaryocytic leukemia in mice contribute to uncovering new biomarkers and therapeutic vulnerabilities

Blood AdvancesNovember 8, 2019
Sophie CardinSonia Cellot
1
International Journal of Molecular Sciences

The Blood-Brain Barrier and Its Intercellular Junctions in Age-Related Brain Disorders

International Journal of Molecular SciencesNovember 3, 2019
Laura CosteaIstván A Krizbai
2
1
The Journal of Steroid Biochemistry and Molecular Biology

Deterioration of neuroregenerative plasticity in association with testicular atrophy and dysregulation of the hypothalamic-pituitary-gonadal (HPG) axis in Huntington's disease: A putative role of the Huntingtin gene in steroidogenesis

The Journal of Steroid Biochemistry and Molecular BiologyNovember 9, 2019
Kaviya SelvarajMahesh Kandasamy
1
Medicine

Spinocerebellar ataxia 2 in a family with different phenotypes: Two case reports

MedicineNovember 1, 2019
Yuan-Yuan LiYayun Yan
American Journal of Human Genetics

A Comprehensive Haplotype Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease

American Journal of Human GeneticsNovember 4, 2019
Chris KayMichael Reuben Hayden
Ophthalmic Genetics

Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1 ) gene

Ophthalmic GeneticsNovember 13, 2019
Maha M MameeshAnuradha Ganesh
1
Scientific Reports

Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping

Scientific ReportsNovember 11, 2019
Mingjue ZhaoSamuel S C Chong
CNS & Neurological Disorders Drug Targets

A Review for Lithium: Pharmacokinetics, Drug Design and Toxicity

CNS & Neurological Disorders Drug TargetsNovember 13, 2019
Wen JinhuaTan Jun
Revue neurologique

Melatonin: A review of its potential functions and effects on neurological diseases

Revue neurologiqueNovember 9, 2019
M GunataH A Acet

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