Molecular Analysis of the IT15 Gene in Patients with Apparently ‘Sporadic’ Huntington’s Disease

1996 ◽  
Vol 36 (6) ◽  
pp. 348-352 ◽  
Author(s):  
Paola Mandich ◽  
Emilio Di Maria ◽  
Emilia Bellone ◽  
Franco Ajmar ◽  
Giovanni Abbruzzese
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Molecular Analysis

Molecular analysis in Huntington's disease (HD) for predictive testing and clinical confirmation

1997 ◽  
Vol 42 (1) ◽  
pp. 184S
Author(s):  
F. Squitien ◽  
L. Di Maio ◽  
G. Napolitano ◽  
S. Cocozza ◽  
G. Campanella
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Molecular Analysis ◽  
Predictive Testing

Molecular analysis and clinical correlations of the Huntington's disease mutation

The Lancet ◽  
1993 ◽  
Vol 342 (8877) ◽  
pp. 954-958 ◽  
Author(s):  
J.C MacMillan ◽  
R.G Snell ◽  
A Tyler ◽  
G.D Houlihan ◽  
I Fenton ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Molecular Analysis ◽  
Disease Mutation ◽  
Clinical Correlations

scholarly journals Regional vulnerability in Huntington's disease: fMRI-guided molecular analysis in patients and a mouse model of disease

2013 ◽  
Vol 52 ◽  
pp. 84-93 ◽  
Author(s):  
Nicole M. Lewandowski ◽  
Yvette Bordelon ◽  
Adam M. Brickman ◽  
Sergio Angulo ◽  
Usman Khan ◽  
...  
Keyword(s):  
Mouse Model ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Molecular Analysis ◽  
Regional Vulnerability

scholarly journals Molecular analysis of late onset Huntington's disease.

1993 ◽  
Vol 30 (12) ◽  
pp. 991-995 ◽  
Author(s):  
B Kremer ◽  
F Squitieri ◽  
H Telenius ◽  
S E Andrew ◽  
J Theilmann ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Molecular Analysis ◽  
Late Onset

Molecular analysis of Huntington's disease and linked polymorphisms in the Indian population

2003 ◽  
Vol 108 (4) ◽  
pp. 281-286 ◽  
Author(s):  
Q. Saleem ◽  
S. Roy ◽  
U. Murgood ◽  
R. Saxena ◽  
I. C. Verma ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Molecular Analysis ◽  
Indian Population

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects

1993 ◽  
Vol 5 (2) ◽  
pp. 174-179 ◽  
Author(s):  
Y. Paul Goldberg ◽  
Berry Kremer ◽  
Susan E. Andrew ◽  
Jane Theilmann ◽  
Rona K. Graham ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Molecular Analysis ◽  
Origin Effects ◽  
Intermediate Alleles ◽  
New Mutations

scholarly journals Hypomorphic mutation of the mouse Huntington’s disease gene orthologue

2018 ◽  
Author(s):  
Vidya Murthy ◽  
Toma Tebaldi ◽  
Toshimi Yoshida ◽  
Serkan Erdin ◽  
Teresa Calzonetti ◽  
...  
Keyword(s):  
Body Size ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Gene Product ◽  
Molecular Analysis ◽  
Neurodegenerative Disorder ◽  
Therapeutic Strategies ◽  
Cag Repeat ◽  
Organ Development ◽  
Hd Gene

AbstractRare individuals with hypomorphic inactivating mutations in the Huntington’s Disease (HD) gene (HTT), identified by CAG repeat expansion in the eponymous neurodegenerative disorder, exhibit variable abnormalities that implyHTTessential roles during organ development. Here we report phenotypes produced when increasingly severe hypomorphic mutations inHtt, the murineHTTorthologue (inHdhneoQ20,HdhneoQ50,HdhneoQ111mice), were placed over a null allele (Hdhex4/5). The most severe hypomorphic allele failed to rescue null lethality at gastrulation, while the intermediate alleles yielded perinatal lethality and a variety of fetal abnormalities affecting body size, skin, skeletal and ear formation, and transient defects in hematopoiesis. Comparative molecular analysis of wild-type andHtt-null retinoic acid-differentiated cells revealed gene network dysregulation associated with organ development and proposed polycomb repressive complexes and miRNAs as molecular mediators. Together these findings demonstrate that the HD gene acts both pre- and post-gastrulation and possibly suggest pleiotropic consequences ofHTT-lowering therapeutic strategies.Author SummaryTheHTTgene product mutated in Huntington’s Disease (HD) has essential roles during normal organism development, however, still not fully predictable are the functional consequences of its partial inactivation. Our genetic study provides a comprehensive effects’ description of progressively stronger suppression ofHttgene, the murineHTTcounterpart. The most severeHttreduction leads to embryo lethality, while intermediateHttdosages yield a variety of developmental abnormalities affecting body size, skin, skeletal and ear formation, and hematopoiesis. Complementing molecular analysis in differentiating cells depleted of a functionalHttgene further elucidates genes’ networks dysregulated during organ development and proposes chromatin regulators and short non-coding RNAs as key molecular mediators. Together these findings demonstrate that the HD gene acts both at early and later stages of development, thus possibly suggesting long-term consequences associated to the newest HD therapeutic strategies aimed at lowering theHTTgene product.

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