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Huntington’s Disease Genetics

Huntington’s Disease Genetics diagram by undefined

Huntington’s disease (HD) is a hereditary neurodegenerative disease caused by mutations in the HTT gene which encodes the huntingtin protein. HD is characterized by poor coordination and involuntary body movements. Here is the latest research on the structure and function of huntingtin.

Top 20 most recent papers
Nature Biotechnology

Self-organizing neuruloids model developmental aspects of Huntington's disease in the ectodermal compartment

Nature BiotechnologySeptember 11, 2019
Tomomi HaremakiAli H. Brivanlou
95
4
3
33
bioRxiv

Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease

bioRxivJuly 11, 2019
Galen E.B. WrightMichael Reuben Hayden
17
5
bioRxiv

Expanded huntingtin CAG repeats disrupt the balance between neural progenitor expansion and differentiation in human cerebral organoids

bioRxivNovember 26, 2019
Jinqiu ZhangMahmoud A. Pouladi
6
bioRxiv

Rapid evolution at the telomere: transposable element dynamics at an intrinsically unstable locus

bioRxivSeptember 26, 2019
Michael P McGurkDaniel A. Barbash
32
6
ACS Applied Materials & Interfaces

Selenium Nanoparticles as an Efficient Nanomedicine for the Therapy of Huntington's Disease

ACS Applied Materials & InterfacesSeptember 4, 2019
Wenshu CongChun-ying Chen
8
1
7
bioRxiv

Exploring the Pannexin 1 interactome: In silico cross-analyses with postsynaptic proteins and neuropsychiatric disorder susceptibility genes

bioRxivOctober 11, 2019
Simona Denise FrederiksenLeigh Anne Swayne
20
3
Journal of Community Genetics

Improving follow up after predictive testing in Huntington's disease: evaluating a genetic counselling narrative group session

Journal of Community GeneticsApril 18, 2019
Cheryl L StopfordRhona MacLeod
5
6
Neurology

Abnormal brain development in child and adolescent carriers of mutant huntingtin

NeurologyAugust 3, 2019
Ellen van der PlasPeggy C Nopoulos
17
1
12
bioRxiv

Circulating bacterial DNA as a tool towards non-invasive biomarkers for colorectal cancer and adenoma

bioRxivMay 23, 2019
Qian XiaoKe-Feng Ding
5
3
bioRxiv

A primer genetic toolkit for exploring mitochondrial biology and disease using zebrafish

bioRxivFebruary 6, 2019
Ankit SabharwalStephen C. Ekker
14
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
Stem Cell Reports

CTIP2-Regulated Reduction in PKA-Dependent DARPP32 Phosphorylation in Human Medium Spiny Neurons: Implications for Huntington Disease

Stem Cell ReportsAugust 8, 2019
Marija FjodorovaMeng Amy Li
2
1
1
6
1
Brain : a Journal of Neurology

CYP46A1 gene therapy deciphers the role of brain cholesterol metabolism in Huntington's disease

Brain : a Journal of NeurologyJuly 9, 2019
Radhia KacherSandrine Betuing
18
2
18
Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics

DNA Damage Repair in Huntington's Disease and Other Neurodegenerative Diseases

Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeuticsJuly 30, 2019
Tamara MaiuriRay Truant
14
1
13
Cell Reports

Unbiased Profiling of Isogenic Huntington Disease hPSC-Derived CNS and Peripheral Cells Reveals Strong Cell-Type Specificity of CAG Length Effects

Cell ReportsFebruary 26, 2019
Jolene OoiMahmoud A. Pouladi
26
1
38
European Archives of Psychiatry and Clinical Neuroscience

A miRNome analysis of drug-free manic psychotic bipolar patients versus healthy controls

European Archives of Psychiatry and Clinical NeuroscienceAugust 17, 2019
Silvia TabanoMassimiliano Buoli
bioRxiv

Global ribosome profiling reveals that mutant huntingtin stalls ribosomes and represses protein synthesis independent of fragile X mental retardation protein

bioRxivMay 7, 2019
Mehdi EshraghiSrinivasa Subramaniam
Brain : a Journal of Neurology

MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1

Brain : a Journal of NeurologyJune 19, 2019
Michael D FlowerSarah J Tabrizi
25
1
1
29
Cell

CAG Repeat Not Polyglutamine Length Determines Timing of Huntington's Disease Onset

CellAugust 8, 2019
Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium. Electronic address: gusella@helix.mgh.harvard.edu, Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium
94
9
103
1
Cold Spring Harbor Perspectives in Biology

Calcium-Handling Defects and Neurodegenerative Disease

Cold Spring Harbor Perspectives in BiologyAugust 19, 2019
Sean SchrankGrace E Stutzmann
2
1
8

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