Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA [PDF]
EMBO Molecular MedicineSpinal muscular atrophy (SMA) results from SMN1 gene loss-of-function (LOF), with disease severity directly linked to the level of remaining SMN protein.
Brett W Stringer +7 more
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Comparative study of third-generation sequencing-based CASMA-trio and STR linkage analysis for identifying SMN1 2 + 0 carriers [PDF]
Scientific ReportsSpinal Muscular Atrophy (SMA, MIM#253300) is an autosomal recessive neuromuscular disorder caused by defects in the Survival Motor Neuron (SMN) gene. The SMN1 gene, recognized as the primary pathogenic gene for SMA, exhibits a high degree of sequence ...
Jianchun He +10 more
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SMN deficiency inhibits endochondral ossification via promoting TRAF6-induced ubiquitination degradation of YBX1 in spinal muscular atrophy [PDF]
Bone ResearchSurvival of motor neuron (SMN) protein encoded by SMN1 gene, is the essential and ubiquitously expressed protein in all tissues. Prior studies demonstrated that SMN deficiency impaired bone development, but the underlying mechanism of abnormal ...
Zijie Zhou +8 more
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SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2018 Introduction/Objective. Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease. The majority of cases are apparently sporadic ALS (SALS) with variants in susceptibility genes or sometimes in high-risk ALS genes.
Brkušanin Miloš +7 more
doaj +3 more sources
Frontiers in Genetics, 2019 Preimplantation genetic testing for the monogenic disorder (PGT-M) spinal muscular atrophy (SMA) is significantly improved by supplementation of SMN1 deletion detection with marker-based linkage analysis. To expand the availability of informative markers
Mingjue Zhao +8 more
doaj +2 more sources
Phenotypes of SMA patients retaining SMN1 with intragenic mutation [PDF]
Brain and Development, 2021 Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous deletion or intragenic mutation of the SMN1 gene. It is well-known that high copy number of its homologous gene, SMN2, modifies the phenotype of SMN1-deleted patients.
Yogik Onky Silvana Wijaya +21 more
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Enhancement of SMN protein levels in a mouse model of spinal muscular atrophy using novel drug‐like compounds [PDF]
EMBO Molecular Medicine, 2013 Spinal muscular atrophy (SMA) is a neurodegenerative disease that causes progressive muscle weakness, which primarily targets proximal muscles. About 95% of SMA cases are caused by the loss of both copies of the SMN1 gene. SMN2 is a nearly identical copy
Jonathan J. Cherry +8 more
doaj +4 more sources
Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1 [PDF]
European Journal of Human Genetics, 2003 Most carriers of autosomal recessive spinal muscular atrophy (SMA) have only one copy of SMN1 because of SMN1 gene deletions or gene conversions from SMN1 to SMN2, which has only one base difference in coding sequence from SMN1. Using SMN gene dosage analysis, we determined the copy numbers of SMN1 and SMN2 in the general population as well as in SMA ...
Shuji Ogino +4 more
openalex +5 more sources
Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development [PDF]
International Journal of Molecular Sciences, 2021 Matthew E R Butchbach
exaly +2 more sources