Utrophin correlates with disease severity in Duchenne muscular dystrophy

被引：2

作者：

Guiraud, Simon ^{[1
,2
]}

Davies, Kay ^{[3
]}

机构：

[1] Paris Saclay Univ, END ICAP Lab, UVSQ, INSERM,UMR1179, F-78000 Versailles, Paris, France

[2] SQY Therapeut, F-78180 Montigny, France

[3] Univ Oxford, MDUK Oxford Neuromuscular Ctr, Dept Physiol Anat & Genet, Oxford OX1 3PT, England

来源：

MED | 2023年 / 4卷 / 04期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1016/j.medj.2023.03.005

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

This month in Med, the description of an unusually severely affected DMD patient suffering from a large deletion in the dystrophin gene confirms that absence of utrophin worsens the dystrophy and supports the concept that utrophin upregulation ameliorates the pathology. This study may guide the development of dystrophin-based gene therapies.

引用

页码：220 / 222

页数：3

共 50 条

[1] Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy
Kleopa, KA
Drousiotou, A
Ormiston, A
Kyriakides, T
Kyriakides, T
HUMAN MOLECULAR GENETICS, 2006, 15 (10) : 1623 - 1628
[2] Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy (DMD)
Kyriakides, T.
Kleopas, K.
Ormiston, A.
Mavrikiou, E.
Drousiotou, A.
EUROPEAN JOURNAL OF NEUROLOGY, 2005, 12 : 29 - 29
[3] Utrophin in the therapy of Duchenne Muscular Dystrophy
Potter, A.
Squire, S.
Powell, D.
Tinsley, Jon
Wynne, Graham
Mulvaney, A.
Davies, S. G.
Hirst, R.
Davies, K. E.
NEUROMUSCULAR DISORDERS, 2006, 16 : S95 - S95
[4] Utrophin therapy for Duchenne muscular dystrophy?
Nelson, R
LANCET NEUROLOGY, 2004, 3 (11): : 637 - 637
[5] The role of utrophin in the potential therapy of Duchenne muscular dystrophy
Perkins, KJ
Davies, KE
NEUROMUSCULAR DISORDERS, 2002, 12 : S78 - S89
[6] Duchenne muscular dystrophy and the neuromuscular junction: the utrophin link
Gramolini, AO
Jasmin, BJ
BIOESSAYS, 1997, 19 (09) : 747 - 750
[7] Upregulation of utrophin in the myocardium of a carrier of Duchenne muscular dystrophy
Behr, TM
Fischer, P
Mudra, H
Theisen, K
Spes, C
Uberfuhr, P
MullerFelber, W
Pongratz, DE
Angermann, C
EUROPEAN HEART JOURNAL, 1997, 18 (04) : 699 - 700
[8] Micro-utrophin Therapy for Duchenne Muscular Dystrophy
Duan, Dongsheng
MOLECULAR THERAPY, 2019, 27 (11) : 1872 - 1874
[9] The potential of utrophin modulators for the treatment of Duchenne muscular dystrophy
Guiraud, Simon
Roblin, David
Kay, Davies E.
EXPERT OPINION ON ORPHAN DRUGS, 2018, 6 (03): : 179 - 192
[10] Transcriptional adaptation upregulates utrophin in Duchenne muscular dystrophy
Falcucci, Lara
Dooley, Christopher M.
Adamoski, Douglas
Juan, Thomas
Martinez, Justin
Georgieva, Angelina M.
Mamchaoui, Kamel
Cirzi, Cansu
Stainier, Didier Y. R.
NATURE, 2025, : 493 - 502

← 1 2 3 4 5 →