Search details
1.
BIN1 modulation in vivo rescues dynamin-related myopathy.
Proc Natl Acad Sci U S A
; 119(9)2022 03 01.
Article
in English
| MEDLINE | ID: mdl-35217605
2.
Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.
Mol Ther
; 30(2): 868-880, 2022 02 02.
Article
in English
| MEDLINE | ID: mdl-34371181
3.
Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies.
Mol Ther
; 29(8): 2514-2534, 2021 08 04.
Article
in English
| MEDLINE | ID: mdl-33940157
4.
Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy.
Proc Natl Acad Sci U S A
; 115(43): 11066-11071, 2018 10 23.
Article
in English
| MEDLINE | ID: mdl-30291191
5.
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.
Hum Mol Genet
; 26(19): 3736-3748, 2017 10 01.
Article
in English
| MEDLINE | ID: mdl-28934386
6.
Single Intramuscular Injection of AAV-shRNA Reduces DNM2 and Prevents Myotubular Myopathy in Mice.
Mol Ther
; 26(4): 1082-1092, 2018 04 04.
Article
in English
| MEDLINE | ID: mdl-29506908
7.
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
Nat Genet
; 39(9): 1134-9, 2007 Sep.
Article
in English
| MEDLINE | ID: mdl-17676042
8.
CXorf6 is a causative gene for hypospadias.
Nat Genet
; 38(12): 1369-71, 2006 Dec.
Article
in English
| MEDLINE | ID: mdl-17086185
9.
Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.
FASEB J
; 27(8): 3384-94, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23695157
10.
Inactivating the lipid kinase activity of PI3KC2ß is sufficient to rescue myotubular myopathy in mice.
JCI Insight
; 8(9)2023 05 08.
Article
in English
| MEDLINE | ID: mdl-36943412
11.
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Hum Mutat
; 33(6): 949-59, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22396310
12.
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
Proc Natl Acad Sci U S A
; 106(44): 18763-8, 2009 Nov 03.
Article
in English
| MEDLINE | ID: mdl-19846786
13.
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.
Hum Mol Genet
; 17(14): 2132-43, 2008 Jul 15.
Article
in English
| MEDLINE | ID: mdl-18434328
14.
Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin.
JCI Insight
; 5(18)2020 09 17.
Article
in English
| MEDLINE | ID: mdl-32809972
15.
Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients.
Mol Ther Methods Clin Dev
; 17: 1178-1189, 2020 Jun 12.
Article
in English
| MEDLINE | ID: mdl-32514412
16.
Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration.
Dis Model Mech
; 13(11)2020 11 24.
Article
in English
| MEDLINE | ID: mdl-32994313
17.
Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.
Sci Transl Med
; 11(484)2019 03 20.
Article
in English
| MEDLINE | ID: mdl-30894500
18.
Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation.
J Clin Invest
; 127(12): 4477-4487, 2017 12 01.
Article
in English
| MEDLINE | ID: mdl-29130937
19.
Antisense oligonucleotide-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice.
Nat Commun
; 8: 15661, 2017 06 07.
Article
in English
| MEDLINE | ID: mdl-28589938
20.
Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.
J Clin Invest
; 124(3): 1350-63, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24569376