Membrane traffic and muscle: Lessons from human disease

被引：34

作者：

Dowling, James J. ^{[1
]}

Gibbs, Elizabeth M. ^{[2
]}

Feldman, Eva L. ^{[3
]}

机构：

[1] Univ Michigan, Med Ctr, Dept Pediat, Ann Arbor, MI 48109 USA

[2] Univ Michigan, Med Ctr, Dept Neurosci, Ann Arbor, MI 48109 USA

[3] Univ Michigan, Med Ctr, Dept Neurol, Ann Arbor, MI 48109 USA

来源：

TRAFFIC | 2008年 / 9卷 / 07期

关键词：

BIN1; caveolin-3; dynamin; 2; dysferlin; membrane traffic; myotubularin;

D O I：

10.1111/j.1600-0854.2008.00716.x

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Like all mammalian tissues, skeletal muscle is dependent on membrane traffic for proper development and homeostasis. This fact is underscored by the observation that several human diseases of the skeletal muscle are caused by mutations in gene products of the membrane trafficking machinery. An examination of these diseases and the proteins that underlie them is instructive both in terms of determining disease pathogenesis and of understanding the normal aspects of muscle biology regulated by membrane traffic. This review highlights our current understanding of the trafficking genes responsible for human myopathies.

引用

页码：1035 / 1043

页数：9

共 69 条

[1]

Angelini C, 2004, Acta Myol, V23, P130

[2]

AOKI M, DYSFERLINOPATHY

[3] Defective membrane repair in dysferlin-deficient muscular dystrophy [J].

Bansal, D ;

Miyake, K ;

Vogel, SS ;

Groh, S ;

Chen, CC ;

Williamson, R ;

McNeil, PL ;

Campbell, KP .

NATURE, 2003, 423 (6936) :168-172

[4] A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B [J].

Bashir, R ;

Britton, S ;

Strachan, T ;

Keers, S ;

Vafiadaki, E ;

Lako, M ;

Richard, I ;

Marchand, S ;

Bourg, N ;

Argov, Z ;

Sadeh, M ;

Mahjneh, I ;

Marconi, G ;

Passos-Bueno, MR ;

Moreira, ED ;

Zatz, M ;

Beckmann, JS ;

Bushby, K .

NATURE GENETICS, 1998, 20 (01) :37-42

[5]

Bertini E, 2004, Neuromuscul Disord, V14, P387, DOI 10.1016/j.nmd.2004.04.002

[6] Mutations in dynamin 2 cause dominant centronuclear myopathy [J].

Bitoun, M ;

Maugenre, S ;

Jeannet, PY ;

Lacène, E ;

Ferrer, X ;

Laforêt, P ;

Martin, JJ ;

Laporte, J ;

Lochmüller, H ;

Beggs, AH ;

Fardeau, M ;

Eymard, B ;

Romero, NB ;

Guicheney, P .

NATURE GENETICS, 2005, 37 (11) :1207-1209

[7] Dynamin 2 mutations cause sporadic centronuclear myropathy with neonatal onset [J].

Bitoun, Marc ;

Bevilacqua, Jorge A. ;

Prudhon, Bernard ;

Maugenre, Svetlana ;

Taratuto, Ana Lia ;

Monges, Soledad ;

Lubieniecki, Fabiana ;

Cances, Claude ;

Uro-Coste, Emmanuelle ;

Mayer, Michele ;

Fardeau, Michel ;

Romero, Norma B. ;

Guicheney, Pascale .

ANNALS OF NEUROLOGY, 2007, 62 (06) :666-670

[8]

BRUNO C, CAVEOLINOPATHIES

[9] The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice [J].

Buj-Bello, A ;

Laugel, V ;

Messaddeq, N ;

Zahreddine, H ;

Laporte, J ;

Pellissiert, JF ;

Mandel, JL .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2002, 99 (23) :15060-15065

[10] Amphiphysin II (SH3P9; BIN1), a member of the amphiphysin/Rvs family, is concentrated in the cortical cytomatrix of axon initial segments and nodes of Ranvier in brain and around T tubules in skeletal muscle [J].

Butler, MH ;

David, C ;

Ochoa, GC ;

Freyberg, Z ;

Daniell, L ;

Grabs, D ;

Cremona, O ;

DeCamilli, P .

JOURNAL OF CELL BIOLOGY, 1997, 137 (06) :1355-1367

← 1 2 3 4 5 6 7 →