Literature DB >> 23315303

Spinal muscular atrophy and the antiapoptotic role of survival of motor neuron (SMN) protein.

Ryan S Anderton1, Bruno P Meloni, Frank L Mastaglia, Sherif Boulos.   

Abstract

Spinal muscular atrophy (SMA) is a devastating and often fatal neurodegenerative disease that affects spinal motor neurons and leads to progressive muscle wasting and paralysis. The survival of motor neuron (SMN) gene is mutated or deleted in most forms of SMA, which results in a critical reduction in SMN protein. Motor neurons appear particularly vulnerable to reduced SMN protein levels. Therefore, understanding the functional role of SMN in protecting motor neurons from degeneration is an essential prerequisite for the design of effective therapies for SMA. To this end, there is increasing evidence indicating a key regulatory antiapoptotic role for the SMN protein that is important in motor neuron survival. The aim of this review is to highlight key findings that support an antiapoptotic role for SMN in modulating cell survival and raise possibilities for new therapeutic approaches.

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Year:  2013        PMID: 23315303     DOI: 10.1007/s12035-013-8399-5

Source DB:  PubMed          Journal:  Mol Neurobiol        ISSN: 0893-7648            Impact factor:   5.590


  159 in total

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3.  Heterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissues.

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Authors:  A Broccolini; W K Engel; V Askanas
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5.  Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis.

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Authors:  Simona Pedrotti; Pamela Bielli; Maria Paola Paronetto; Fabiola Ciccosanti; Gian Maria Fimia; Stefan Stamm; James L Manley; Claudio Sette
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Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

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Authors:  L H Boise; M González-García; C E Postema; L Ding; T Lindsten; L A Turka; X Mao; G Nuñez; C B Thompson
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2.  Oligomeric Properties of Survival Motor Neuron·Gemin2 Complexes.

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Authors:  Sara Oliván; Ana C Calvo; Amaya Rando; Mireia Herrando-Grabulosa; Raquel Manzano; Pilar Zaragoza; Eduardo F Tizzano; Jose Aquilera; Rosario Osta
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Journal:  PLoS Genet       Date:  2020-05-26       Impact factor: 5.917

6.  A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4).

Authors:  G Perez-Siles; M Ellis; A Ashe; B Grosz; S Vucic; M C Kiernan; K A Morris; S W Reddel; M L Kennerson
Journal:  Front Genet       Date:  2022-01-19       Impact factor: 4.599

7.  NOVA1 promotes SMN2 exon 7 splicing by binding the UCAC motif and increases SMN protein expression.

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