In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype

C. Gineste; J.M. de Winter; C. Kohl; C.C. Witt; B. Giannesini; K. Brohm; Y. Le Fur; N. Gretz; C. Vilmen; E. Pecchi; M. Jubeau; P.J. Cozzone; G.J.M. Stienen; H. Granzier; S. Labeit; C.A.C. Ottenheijm; D. Bendahan; J. Gondin

doi:10.1016/j.nmd.2012.12.011

In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype

C. Gineste, J.M. de Winter, C. Kohl, C.C. Witt, B. Giannesini, K. Brohm, Y. Le Fur, N. Gretz, C. Vilmen, E. Pecchi, M. Jubeau, P.J. Cozzone, G.J.M. Stienen, H. Granzier, S. Labeit, C.A.C. Ottenheijm, D. Bendahan, J. Gondin

Physics of Living Systems

Research output: Contribution to Journal › Article › Academic › peer-review

Abstract

Nemaline myopathy is the most common congenital skeletal muscle disease, and mutations in the nebulin gene account for 50% of all cases. Recent studies suggest that the disease severity might be related to the nebulin expression levels. Considering that mutations in the nebulin gene are typically recessive, one would expect that a single functional nebulin allele would maintain nebulin protein expression which would result in preserved skeletal muscle function. We investigated skeletal muscle function of heterozygous nebulin knock-out (i.e., nebulin

Original language	English
Pages (from-to)	357-369
Journal	Neuromuscular Disorders
Volume	23
Issue number	4
DOIs	https://doi.org/10.1016/j.nmd.2012.12.011
Publication status	Published - 2013

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1016/j.nmd.2012.12.011

Persistent URL (handle)

Persistent link

Cite this

Gineste, C., de Winter, J. M., Kohl, C., Witt, C. C., Giannesini, B., Brohm, K., Le Fur, Y., Gretz, N., Vilmen, C., Pecchi, E., Jubeau, M., Cozzone, P. J., Stienen, G. J. M., Granzier, H., Labeit, S., Ottenheijm, C. A. C., Bendahan, D., & Gondin, J. (2013). In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype. Neuromuscular Disorders, 23(4), 357-369. https://doi.org/10.1016/j.nmd.2012.12.011

@article{3a870476998746f2982088981e71d91c,

title = "In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype",

abstract = "Nemaline myopathy is the most common congenital skeletal muscle disease, and mutations in the nebulin gene account for 50% of all cases. Recent studies suggest that the disease severity might be related to the nebulin expression levels. Considering that mutations in the nebulin gene are typically recessive, one would expect that a single functional nebulin allele would maintain nebulin protein expression which would result in preserved skeletal muscle function. We investigated skeletal muscle function of heterozygous nebulin knock-out (i.e., nebulin",

author = "C. Gineste and {de Winter}, J.M. and C. Kohl and C.C. Witt and B. Giannesini and K. Brohm and {Le Fur}, Y. and N. Gretz and C. Vilmen and E. Pecchi and M. Jubeau and P.J. Cozzone and G.J.M. Stienen and H. Granzier and S. Labeit and C.A.C. Ottenheijm and D. Bendahan and J. Gondin",

year = "2013",

doi = "10.1016/j.nmd.2012.12.011",

language = "English",

volume = "23",

pages = "357--369",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Ltd",

number = "4",

}

Gineste, C, de Winter, JM, Kohl, C, Witt, CC, Giannesini, B, Brohm, K, Le Fur, Y, Gretz, N, Vilmen, C, Pecchi, E, Jubeau, M, Cozzone, PJ, Stienen, GJM, Granzier, H, Labeit, S, Ottenheijm, CAC, Bendahan, D & Gondin, J 2013, 'In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype', Neuromuscular Disorders, vol. 23, no. 4, pp. 357-369. https://doi.org/10.1016/j.nmd.2012.12.011

TY - JOUR

T1 - In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype

AU - Gineste, C.

AU - de Winter, J.M.

AU - Kohl, C.

AU - Witt, C.C.

AU - Giannesini, B.

AU - Brohm, K.

AU - Le Fur, Y.

AU - Gretz, N.

AU - Vilmen, C.

AU - Pecchi, E.

AU - Jubeau, M.

AU - Cozzone, P.J.

AU - Stienen, G.J.M.

AU - Granzier, H.

AU - Labeit, S.

AU - Ottenheijm, C.A.C.

AU - Bendahan, D.

AU - Gondin, J.

PY - 2013

Y1 - 2013

N2 - Nemaline myopathy is the most common congenital skeletal muscle disease, and mutations in the nebulin gene account for 50% of all cases. Recent studies suggest that the disease severity might be related to the nebulin expression levels. Considering that mutations in the nebulin gene are typically recessive, one would expect that a single functional nebulin allele would maintain nebulin protein expression which would result in preserved skeletal muscle function. We investigated skeletal muscle function of heterozygous nebulin knock-out (i.e., nebulin

AB - Nemaline myopathy is the most common congenital skeletal muscle disease, and mutations in the nebulin gene account for 50% of all cases. Recent studies suggest that the disease severity might be related to the nebulin expression levels. Considering that mutations in the nebulin gene are typically recessive, one would expect that a single functional nebulin allele would maintain nebulin protein expression which would result in preserved skeletal muscle function. We investigated skeletal muscle function of heterozygous nebulin knock-out (i.e., nebulin

U2 - 10.1016/j.nmd.2012.12.011

DO - 10.1016/j.nmd.2012.12.011

M3 - Article

SN - 0960-8966

VL - 23

SP - 357

EP - 369

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

IS - 4

ER -

In vivo and in vitro investigations of heterozygous nebulin knock-out mice disclose a mild skeletal muscle phenotype

Abstract

UN SDGs

Access to Document

Persistent URL (handle)

Fingerprint

Cite this