کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
8839749 1613752 2018 21 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Spinal muscular atrophy: Selective motor neuron loss and global defect in the assembly of ribonucleoproteins
ترجمه فارسی عنوان
آتروفی عضلانی نخاعی: از دست دادن نورون های انتخابی و نقص جهانی در جمع آوری ریبونولوپروتئین ها
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب (عمومی)
چکیده انگلیسی
Spinal muscular atrophy is caused by deletions or mutations in the SMN1 gene that result in reduced expression of the SMN protein. The SMN protein is an essential molecular chaperone that is required for the biogenesis of multiple ribonucleoprotein (RNP) complexes including spliceosomal small nuclear RNPs (snRNPs). Reductions in SMN expression result in a reduced abundance of snRNPs and to downstream RNA splicing alterations. SMN is also present in axons and dendrites and appears to have important roles in the formation of neuronal mRNA-protein complexes during development or neuronal repair. Thus, SMA is an exemplar, selective motor neuron disorder that is caused by defects in fundamental RNA processing events. A detailed molecular understanding of how motor neurons fail, and why other neurons do not, in SMA will yield important principals about motor neuron maintenance and neuronal specificity in neurodegenerative diseases.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain Research - Volume 1693, Part A, 15 August 2018, Pages 92-97
نویسندگان
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