How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
نویسندگان
چکیده
منابع مشابه
How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with dysfunctional α-motor neurons in the anterior horn of the spinal cord. SMA is caused by loss (∼95% of SMA cases) or mutation (∼5% of SMA cases) of the survival motor neuron 1 gene SMN1. As the product of SMN1, SMN is a component of the SMN complex, and is also involved in the biosynthesis of the small nuclear rib...
متن کاملCorrection: Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA
[This corrects the article DOI: 10.1371/journal.pone.0152439.].
متن کاملMolecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.
Spinal muscular atrophy (SMA) is a common autosomal recessive disease. SMA is linked to the 5q13 locus in 95% of patients, and in at least 98% of them, the SMN1 homozygous deletion is found. Compound heterozygous patients, who have an SMN1 deletion associated with a subtle mutation, appear undeleted with the common molecular diagnostic test that detects only the homozygous absence of SMN1. In t...
متن کاملSMN Deficiency in SMA: Splicing Gone Awry
Spinal muscular atrophy (SMA) is the most common motor neuron degenerative disease and is the principal genetic cause of infant mortality, affecting 1 in every 6000 newborns. The survival of motor neurons (SMN) gene has been implicated as the disease-causing gene in SMA, and it is deleted or mutated in over 98% of SMA patients. Our lab has pioneered research elucidating the functions of the SMN...
متن کاملA homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA
Spinal muscular atrophy (SMA), the most common autosomal recessive cause of infant death, is typically diagnosed by determination of SMN1 copy number. Approximately 3-5% of patients with SMA retain at least one copy of the SMN1 gene carrying pathogenic insertions, deletions, or point mutations. We report a patient with SMA who is homozygous for two mutations carried in cis: an 8 bp duplication ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: PLOS ONE
سال: 2017
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0178519