Mammalian Models of Spinal Muscular Atrophy

AHMB Burghes; CJ DiDonato; V McGovern; WD Arnold

doi:10.1016/B978-0-12-803685-3.00015-X

Mammalian Models of Spinal Muscular Atrophy

AHMB Burghes, CJ DiDonato, V McGovern, WD Arnold

Pediatrics

Research output: Chapter in Book/Report/Conference proceeding › Chapter

8 Scopus citations

Abstract

Spinal muscular atrophy (SMA) is caused by reduced levels of the survival motor neuron (SMN) protein. In humans this is caused by loss of SMN1 and retention of SMN2. A challenge in modeling SMA in animals is obtaining SMN levels equivalent to what is observed in SMA. A number of mouse models of SMA as well as a larger porcine model have been created. These models are used to test SMA therapeutics and to study the targets of SMN reduction that are most relevant for the pathogenesis of SMA. In addition, the models are used to investigate the potential modification of the SMA phenotype independent of SMN levels. In this chapter we summarize the current mammalian models of SMA.

Original language	English (US)
Title of host publication	Spinal Muscular Atrophy
Subtitle of host publication	Disease Mechanisms and Therapy
Publisher	Elsevier Inc
Pages	241-260
Number of pages	20
ISBN (Electronic)	9780128036860
ISBN (Print)	9780128036853
DOIs	https://doi.org/10.1016/B978-0-12-803685-3.00015-X
State	Published - Jan 1 2017

Keywords

Complementation
SMA
SMA mouse model
SMN
Transgenic mice

ASJC Scopus subject areas

Medicine(all)
Neuroscience(all)

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10.1016/B978-0-12-803685-3.00015-X

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title = "Mammalian Models of Spinal Muscular Atrophy",

abstract = "Spinal muscular atrophy (SMA) is caused by reduced levels of the survival motor neuron (SMN) protein. In humans this is caused by loss of SMN1 and retention of SMN2. A challenge in modeling SMA in animals is obtaining SMN levels equivalent to what is observed in SMA. A number of mouse models of SMA as well as a larger porcine model have been created. These models are used to test SMA therapeutics and to study the targets of SMN reduction that are most relevant for the pathogenesis of SMA. In addition, the models are used to investigate the potential modification of the SMA phenotype independent of SMN levels. In this chapter we summarize the current mammalian models of SMA.",

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AU - Burghes, AHMB

AU - DiDonato, CJ

AU - McGovern, V

AU - Arnold, WD

PY - 2017/1/1

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N2 - Spinal muscular atrophy (SMA) is caused by reduced levels of the survival motor neuron (SMN) protein. In humans this is caused by loss of SMN1 and retention of SMN2. A challenge in modeling SMA in animals is obtaining SMN levels equivalent to what is observed in SMA. A number of mouse models of SMA as well as a larger porcine model have been created. These models are used to test SMA therapeutics and to study the targets of SMN reduction that are most relevant for the pathogenesis of SMA. In addition, the models are used to investigate the potential modification of the SMA phenotype independent of SMN levels. In this chapter we summarize the current mammalian models of SMA.

AB - Spinal muscular atrophy (SMA) is caused by reduced levels of the survival motor neuron (SMN) protein. In humans this is caused by loss of SMN1 and retention of SMN2. A challenge in modeling SMA in animals is obtaining SMN levels equivalent to what is observed in SMA. A number of mouse models of SMA as well as a larger porcine model have been created. These models are used to test SMA therapeutics and to study the targets of SMN reduction that are most relevant for the pathogenesis of SMA. In addition, the models are used to investigate the potential modification of the SMA phenotype independent of SMN levels. In this chapter we summarize the current mammalian models of SMA.

KW - Complementation

KW - SMA

KW - SMA mouse model

KW - SMN

KW - Transgenic mice

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M3 - Chapter

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BT - Spinal Muscular Atrophy

PB - Elsevier Inc

ER -

Mammalian Models of Spinal Muscular Atrophy

Abstract

Keywords

ASJC Scopus subject areas

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