کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5630550 1580619 2017 10 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Spinal muscular atrophy: Factors that modulate motor neurone vulnerability
ترجمه فارسی عنوان
آتروفی عضلانی ستون فقرات: عوامل مؤثر در آسیب پذیری عضلانی حرکتی
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی عصب شناسی
چکیده انگلیسی


- Factors that influence vulnerability of motor neurons in SMA.
- SMA disease modification.
- Impact of surrounding cells on neuronal death.
- Precise molecular defects in SMA; mRNA splicing and miRNA interactions.
- Cytoskeletal stability and axonal transport effects.

Spinal muscular atrophy (SMA), a leading genetic cause of infant death, is a neurodegenerative disease characterised by the selective loss of particular groups of motor neurones in the anterior horn of the spinal cord with concomitant muscle weakness. To date, no effective treatment is available, however, there are ongoing clinical trials are in place which promise much for the future. However, there remains an ongoing problem in trying to link a single gene loss to motor neurone degeneration. Fortunately, given successful disease models that have been established and intensive studies on SMN functions in the past ten years, we are fast approaching the stage of identifying the underlying mechanisms of SMA pathogenesis Here we discuss potential disease modifying factors on motor neurone vulnerability, in the belief that these factors give insight into the pathological mechanisms of SMA and therefore possible therapeutic targets.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Disease - Volume 102, June 2017, Pages 11-20
نویسندگان
, , , ,