Microvascular abnormality in spinal muscular atrophy and its response to antisense oligonucleotide therapy

H. Zhou; H. Ying; M. Scoto; P. Brogan; S. Parson; F. Muntoni

doi:10.1016/j.nmd.2015.06.038

Microvascular abnormality in spinal muscular atrophy and its response to antisense oligonucleotide therapy

H. Zhou, H. Ying, M. Scoto, P. Brogan, S. Parson, F. Muntoni

Medical Education

University College London

Research output: Contribution to journal › Abstract › peer-review

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessively inherited neuromuscular disorder caused by homozygous deletion in the Survival Motor Neuron gene 1 (SMN1). While SMA is considered to be a lower motor neuron disease, increasing clinical and experimental reports indicate the involvement of additional peripheral organs in the pathogenesis of the disease. Vascular defects have been reported in some severe SMA infants and in transgenic mouse models of SMN deficiency. In this study, we have measured the expression of Vegf164 isoforms in SMA mice.

Original language	English
Pages (from-to)	S193
Number of pages	1
Journal	Neuromuscular Disorders
Volume	25
Issue number	Suppl. 2
DOIs	https://doi.org/10.1016/j.nmd.2015.06.038
Publication status	Published - Oct 2015
Event	20th International Congress of the World-Muscle-Society - Brighton Duration: 30 Sept 2015 → 4 Oct 2015

Keywords

spinal muscular-atrophy
SMA
Survival Motor Neuron gene 1
SMN1

Access to Document

10.1016/j.nmd.2015.06.038Licence: Unspecified

Cite this

@article{a515790f2858410bb8b51de3b21d94ab,

title = "Microvascular abnormality in spinal muscular atrophy and its response to antisense oligonucleotide therapy",

abstract = "Spinal muscular atrophy (SMA) is an autosomal recessively inherited neuromuscular disorder caused by homozygous deletion in the Survival Motor Neuron gene 1 (SMN1). While SMA is considered to be a lower motor neuron disease, increasing clinical and experimental reports indicate the involvement of additional peripheral organs in the pathogenesis of the disease. Vascular defects have been reported in some severe SMA infants and in transgenic mouse models of SMN deficiency. In this study, we have measured the expression of Vegf164 isoforms in SMA mice. ",

keywords = "spinal muscular-atrophy, SMA, Survival Motor Neuron gene 1, SMN1",

author = "H. Zhou and H. Ying and M. Scoto and P. Brogan and S. Parson and F. Muntoni",

year = "2015",

month = oct,

doi = "10.1016/j.nmd.2015.06.038",

language = "English",

volume = "25",

pages = "S193",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "PERGAMON-ELSEVIER SCIENCE LTD",

number = "Suppl. 2",

note = "20th International Congress of the World-Muscle-Society ; Conference date: 30-09-2015 Through 04-10-2015",

}

TY - JOUR

T1 - Microvascular abnormality in spinal muscular atrophy and its response to antisense oligonucleotide therapy

AU - Zhou, H.

AU - Ying, H.

AU - Scoto, M.

AU - Brogan, P.

AU - Parson, S.

AU - Muntoni, F.

PY - 2015/10

Y1 - 2015/10

N2 - Spinal muscular atrophy (SMA) is an autosomal recessively inherited neuromuscular disorder caused by homozygous deletion in the Survival Motor Neuron gene 1 (SMN1). While SMA is considered to be a lower motor neuron disease, increasing clinical and experimental reports indicate the involvement of additional peripheral organs in the pathogenesis of the disease. Vascular defects have been reported in some severe SMA infants and in transgenic mouse models of SMN deficiency. In this study, we have measured the expression of Vegf164 isoforms in SMA mice.

AB - Spinal muscular atrophy (SMA) is an autosomal recessively inherited neuromuscular disorder caused by homozygous deletion in the Survival Motor Neuron gene 1 (SMN1). While SMA is considered to be a lower motor neuron disease, increasing clinical and experimental reports indicate the involvement of additional peripheral organs in the pathogenesis of the disease. Vascular defects have been reported in some severe SMA infants and in transgenic mouse models of SMN deficiency. In this study, we have measured the expression of Vegf164 isoforms in SMA mice.

KW - spinal muscular-atrophy

KW - SMA

KW - Survival Motor Neuron gene 1

KW - SMN1

U2 - 10.1016/j.nmd.2015.06.038

DO - 10.1016/j.nmd.2015.06.038

M3 - Abstract

SN - 0960-8966

VL - 25

SP - S193

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - Suppl. 2

T2 - 20th International Congress of the World-Muscle-Society

Y2 - 30 September 2015 through 4 October 2015

ER -

Microvascular abnormality in spinal muscular atrophy and its response to antisense oligonucleotide therapy

Abstract

Keywords

Access to Document

Fingerprint

Cite this