نتایج جستجو برای: survival motor neuron gene

تعداد نتایج: 1595196  

Journal: :iranian journal of basic medical sciences 0
hamdollah delaviz cellular and molecular research centre, department of anatomy, faculty of medicine, yasouj university of medical sciences, yasouj, iran abolfazel faghihi department of anatomy, faculty of medicine, tehran university of medical sciences, tehran, iran jamshid mohamadi department of physiology, faculty of medicine, yasouj university of medical sciences, yasouj, iran amrollah roozbehi cellular and molecular research centre, department of anatomy, faculty of medicine, yasouj university of medical sciences, yasouj, iran

objective(s) motor deficit and neuron degeneration is seen after nerve transection. the aim of this study is to determine whether a poled polyvinelidene fluoride (pvdf) tube with other supportive strategies can protect the neuronal morphology and motor function after sciatic nerve transaction in rats. materials and methods after transection of the left sciatic nerve in 60 male wistar rats (200-...

2014
Chiara Simone Monica Nizzardo Federica Rizzo Margherita Ruggieri Giulietta Riboldi Sabrina Salani Monica Bucchia Nereo Bresolin Giacomo P. Comi Stefania Corti

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a motor neuron disease caused by mutations in the IGHMBP2 gene, without a cure. Here, we demonstrate that neural stem cells (NSCs) from human-induced pluripotent stem cells (iPSCs) have therapeutic potential in the context of SMARD1. We show that upon transplantation NSCs can appropriately engraft and differentiate in the spin...

Journal: :Human molecular genetics 1997
G Battaglia A Princivalle F Forti C Lizier M Zeviani

The survival motor neuron (SMN) gene is the putative disease gene for human spinal muscular atrophy (SMA), an autosomal recessive disorder characterized by progressive degeneration of lower motor neurons. Two copies of the gene, centromeric and telomeric, are present in the same 5q13 chromosomal region in humans. However, only the telomeric gene is affected in SMA. The SMN gene(s) encode(s) a n...

2013
Miyabi Hirano Shigeki Kato Kenta Kobayashi Tomoaki Okada Hiroyuki Yaginuma Kazuto Kobayashi

The development of gene therapy techniques to introduce transgenes that promote neuronal survival and protection provides effective therapeutic approaches for neurological and neurodegenerative diseases. Intramuscular injection of adenoviral and adeno-associated viral vectors, as well as lentiviral vectors pseudotyped with rabies virus glycoprotein (RV-G), permits gene delivery into motor neuro...

Journal: :Cellular and Molecular Life Sciences 2021

Abstract Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease of variable clinical severity that caused by mutations in the survival 1 ( SMN1 ) gene. Despite its name, SMN a ubiquitous protein functions within and outside nervous system has multiple cellular roles transcription, translation, proteostatic mechanisms. Encouragingly, several SMN-directed therapies have rece...

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