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Triplet Repeat Disorders

Triplet Repeat Disorders diagram by Tawani et al, PLOS One
Tawani et al, PLOS One

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

An Anti-amyloidogenic treatment to specifically block the consolidation of traumatic events in mouse

bioRxivJanuary 22, 2020
Paula Lopez-GarciaMariano Carrion-Vazquez
Movement Disorders : Official Journal of the Movement Disorder Society

PET molecular imaging of phosphodiesterase 10A: An early biomarker of Huntington's disease progression

Movement Disorders : Official Journal of the Movement Disorder SocietyJanuary 23, 2020
Patrik FazioPEARL-HD and LONGPDE10 study collaborators
8
Rehabilitation Psychology

Understanding domains that influence perceived stigma in individuals with Huntington disease

Rehabilitation PsychologyJanuary 22, 2020
Nicholas R BoileauNoelle E Carlozzi
2
Cell Reports

Striatal Projection Neurons Require Huntingtin for Synaptic Connectivity and Survival

Cell ReportsJanuary 23, 2020
Caley J BurrusCagla Eroglu
68
4
Journal of Huntington's Disease

Baseline Variables Associated with Functional Decline in 2CARE: A Randomized Clinical Trial in Huntington's Disease

Journal of Huntington's DiseaseJanuary 28, 2020
Andrew McGarryHuntington Study Group 2CARE Investigators and Coordinators
2
Nucleic Acids Research

Dynamics of strand slippage in DNA hairpins formed by CAG repeats: roles of sequence parity and trinucleotide interrupts

Nucleic Acids ResearchJanuary 25, 2020
Pengning XuKeith Weninger
Cell Death & Disease

Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue

Cell Death & DiseaseJanuary 25, 2020
Riccardo TurchiKatia Aquilano
Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry

Huntington's Disease: A Review of the Known PET Imaging Biomarkers and Targeting Radiotracers

Molecules : a Journal of Synthetic Chemistry and Natural Product ChemistryJanuary 26, 2020
Klaudia CybulskaMark Rijpkema
3
Scientific Reports

A Multi-Omics Interpretable Machine Learning Model Reveals Modes of Action of Small Molecules

Scientific ReportsJanuary 24, 2020
Natasha L Patel-MurrayErnest Fraenkel
36
JAMIA Open

A probabilistic disease progression modeling approach and its application to integrated Huntington's disease observational data

JAMIA OpenJanuary 28, 2020
Zhaonan SunJianying Hu
Journal of Pharmacological and Toxicological Methods

Pharmacological investigation of biochemical and behavioral effects resembling Huntington's disease utilizing selective calcium and calmodulin dependent phosphodiesterase inhibitor

Journal of Pharmacological and Toxicological MethodsJanuary 23, 2020
Ravinesh Mishra
bioRxiv

Combining feature selection and shape analysis uncovers precise rules for miRNA regulation in Huntington's disease mice

bioRxivJanuary 25, 2020
Lucile MegretChristian Neri
The Journal of Biological Chemistry

Intracellular vesicle clusters are organelles that synthesize extracellular vesicle-associated cargo proteins

The Journal of Biological ChemistryJanuary 25, 2020
Chelsea M WintersHui-Ling Chiang
Current Developmental Disorders Reports

Canonical Babbling: A Marker for Earlier Identification of Late Detected Developmental Disorders?

Current Developmental Disorders ReportsJanuary 28, 2020
Sigrun LangPeter B Marschik
16
10
European Journal of Pharmaceutics and Biopharmaceutics : Official Journal of Arbeitsgemeinschaft Für Pharmazeutische Verfahrenstechnik E.V

Current insights on lipid nanocarrier-assisted drug delivery in the treatment of neurodegenerative diseases

European Journal of Pharmaceutics and Biopharmaceutics : Official Journal of Arbeitsgemeinschaft Für Pharmazeutische Verfahrenstechnik E.VJanuary 27, 2020
Maria Inês TeixeiraPaulo C Costa
6
bioRxiv

Differential processing and habituation in distinct spatial frequency channels in V1 of a mouse model of fragile X syndrome

bioRxivJanuary 25, 2020
Alexandr PakAlexander A Chubykin
Rejuvenation Research

The Traditional Formula Kai-Xin-San Alleviates Polyglutamine-Mediated Neurotoxicity by Modulating Proteostasis Network in Caenorhabditis elegans

Rejuvenation ResearchJanuary 28, 2020
Lingyun XiaoZebo Huang
4
Biochemical and Biophysical Research Communications

Pharmacological prospects of G-quadruplexes for neurological diseases using porphyrins

Biochemical and Biophysical Research CommunicationsJanuary 26, 2020
Sefan AsamitsuNorifumi Shioda
5
Sub-cellular Biochemistry

Frataxin Structure and Function

Sub-cellular BiochemistryJanuary 16, 2020
Ignacio Hugo CastroJavier Santos
bioRxiv

Intra-striatal AAV2.retro administration leads to extensive retrograde transport in the rhesus macaque brain: implications for disease modeling and therapeutic development

bioRxivJanuary 18, 2020
Alison R WeissJodi L McBride
29

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