Unknown

Dataset Information

0

SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor.


ABSTRACT: *These authors contributed equally to this work.Essential tremor (ET) is the most prevalent movement disorder affecting millions of people in the United States. Although a positive family history is one of the most important risk factors for ET, the genetic causes of ET remain unknown. In this study, whole exome sequencing and subsequent approaches were performed in a family with an autosomal dominant form of early-onset ET. Functional analyses including mutagenesis, cell culture, gene expression, enzyme-linked immunosorbent, and apoptosis assays were also performed. A disease-segregating mutation (p.Gly171Ala), absent in normal population, was identified in the SORT1 gene. The p.Gly171Ala mutation was shown not only to impair the expression of its encoding protein sortilin but also the mRNA levels of its binding partner p75 neurotrophin receptor that is known to be implicated in brain injury, neuronal apoptosis, and neurotransmission.

SUBMITTER: Sanchez E 

PROVIDER: S-EPMC4550298 | biostudies-literature | 2015 Jul-Aug

REPOSITORIES: biostudies-literature

altmetric image

Publications

SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor.

Sánchez Elena E   Bergareche Alberto A   Krebs Catharine E CE   Gorostidi Ana A   Makarov Vladimir V   Ruiz-Martinez Javier J   Chorny Alejo A   Lopez de Munain Adolfo A   Marti-Masso Jose Felix JF   Paisán-Ruiz Coro C  

ASN neuro 20150701 4


*These authors contributed equally to this work.Essential tremor (ET) is the most prevalent movement disorder affecting millions of people in the United States. Although a positive family history is one of the most important risk factors for ET, the genetic causes of ET remain unknown. In this study, whole exome sequencing and subsequent approaches were performed in a family with an autosomal dominant form of early-onset ET. Functional analyses including mutagenesis, cell culture, gene expressio  ...[more]

Similar Datasets

| S-EPMC9032112 | biostudies-literature
| S-EPMC3137691 | biostudies-literature
2020-05-13 | GSE150393 | GEO
| S-EPMC4800290 | biostudies-literature
| S-EPMC3057030 | biostudies-literature
| S-EPMC4191006 | biostudies-literature
| S-EPMC4409011 | biostudies-literature
| S-EPMC7413243 | biostudies-literature
| S-EPMC2677386 | biostudies-literature
| S-EPMC4570211 | biostudies-literature