نتایج جستجو برای: survival motor neuron gene

تعداد نتایج: 1595196  

Journal: :Human molecular genetics 1997
K Talbot C P Ponting A M Theodosiou N R Rodrigues R Surtees R Mountford K E Davies

The Survival Motor Neuron (SMN) gene shows deletions in the majority of patients with Spinal Muscular Atrophy (SMA), a disease of motor neuron degeneration. To date only two missense mutations have been reported in SMN in patients with SMA. The fact that no SMN-homologues have been forthcoming from data-base searching has resulted in a lack of hypotheses concerning the structural and functional...

Journal: :The Journal of clinical investigation 1996
L Bürglen J Amiel L Viollet S Lefebvre P Burlet O Clermont V Raclin P Landrieu A Verloes A Munnich J Melki

The survival motor neuron (SMN) gene was lacking in 6/12 patients with arthrogryposis multiplex congenita (AMC) associated with spinal muscular atrophy (SMA). Neither point mutation in the SMN gene nor evidence for linkage to chromosome 5q13 were found in the other patients. Hitherto, arthrogryposis was regarded as an exclusion criterion in SMA. Our data strongly suggest that AMC of neurogenic ...

2010
Sharyn L. Rossi Gabriel Nistor Tanya Wyatt Hong Zhen Yin Aleksandra J. Poole John H. Weiss Matthew J. Gardener Sipke Dijkstra David F. Fischer Hans S. Keirstead

BACKGROUND Motor neuron loss is characteristic of cervical spinal cord injury (SCI) and contributes to functional deficit. METHODOLOGY/PRINCIPAL FINDINGS In order to investigate the amenability of the injured adult spinal cord to motor neuron differentiation, we transplanted spinal cord injured animals with a high purity population of human motor neuron progenitors (hMNP) derived from human e...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2014
Rhona Seijffers Jiangwen Zhang Jonathan C Matthews Adam Chen Eric Tamrazian Olusegun Babaniyi Martin Selig Meri Hynynen Clifford J Woolf Robert H Brown

ALS is a fatal neurodegenerative disease characterized by a progressive loss of motor neurons and atrophy of distal axon terminals in muscle, resulting in loss of motor function. Motor end plates denervated by axonal retraction of dying motor neurons are partially reinnervated by remaining viable motor neurons; however, this axonal sprouting is insufficient to compensate for motor neuron loss. ...

2016
Michela Murdocca Silvia Anna Ciafrè Paola Spitalieri Rosa Valentina Talarico Massimo Sanchez Giuseppe Novelli Federica Sangiuolo

Spinal Muscular Atrophy (SMA) is a neuromuscular disease caused by mutations in the Survival Motor Neuron 1 gene, resulting in very low levels of functional Survival of Motor Neuron (SMN) protein. SMA human induced Pluripotent Stem Cells (hiPSCs) represent a useful and valid model for the study of the disorder, as they provide in vitro the target cells. MicroRNAs (miRNAs) are often reported as ...

Journal: :Cell 2012
Francesco Lotti Wendy L. Imlach Luciano Saieva Erin S. Beck Le T. Hao Darrick K. Li Wei Jiao George Z. Mentis Christine E. Beattie Brian D. McCabe Livio Pellizzoni

Spinal muscular atrophy (SMA) is a motor neuron disease caused by deficiency of the ubiquitous survival motor neuron (SMN) protein. To define the mechanisms of selective neuronal dysfunction in SMA, we investigated the role of SMN-dependent U12 splicing events in the regulation of motor circuit activity. We show that SMN deficiency perturbs splicing and decreases the expression of a subset of U...

2012
Glenn Christopher Tan Christopher Tan

The Dual Role of Notch Signaling During Motor Neuron Differentiation Glenn Christopher Tan Throughout the developing spinal cord, Olig2 progenitors in the motor neuron progenitor domain give rise to an impressive array of motor neurons, oligodendrocytes and astrocytes. Motor neurons are further diversified into motor columns and pools based on cell body settling position, general axonal traject...

Journal: :Neuroscience 2007
L Chi Y Ke C Luo D Gozal R Liu

The mechanism of selective and age-dependent motor neuron degeneration in human amyotrophic lateral sclerosis (ALS) has not been defined and the role of glutathione (GSH) in association with motor neuron death remains largely unknown. A motor neuron-like cell culture system and a transgenic mouse model were used to study the effect of cellular GSH alteration on motor neuron cell death. Exposure...

2009
Dirk Bäumer Sheena Lee George Nicholson Joanna L. Davies Nicholas J. Parkinson Lyndsay M. Murray Thomas H. Gillingwater Olaf Ansorge Kay E. Davies Kevin Talbot

Spinal muscular atrophy is a severe motor neuron disease caused by inactivating mutations in the SMN1 gene leading to reduced levels of full-length functional SMN protein. SMN is a critical mediator of spliceosomal protein assembly, and complete loss or drastic reduction in protein leads to loss of cell viability. However, the reason for selective motor neuron degeneration when SMN is reduced t...

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