Detalhe da pesquisa
1.
The desmin mutation R349P increases contractility and fragility of stem cell-generated muscle micro-tissues.
Neuropathol Appl Neurobiol
; 48(3): e12784, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34850968
2.
N471D WASH complex subunit strumpellin knock-in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue.
Neuropathol Appl Neurobiol
; 48(1): e12750, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34312900
3.
Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis.
Int J Mol Sci
; 23(19)2022 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36233322
4.
Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice.
Circulation
; 142(22): 2155-2171, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33023321
5.
Effects of long-term immobilisation on endomysium of the soleus muscle in humans.
Exp Physiol
; 106(10): 2038-2045, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387385
6.
Growing Old Too Early: Skeletal Muscle Single Fiber Biomechanics in Ageing R349P Desmin Knock-in Mice Using the MyoRobot Technology.
Int J Mol Sci
; 21(15)2020 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32752098
7.
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.
Am J Hum Genet
; 99(3): 647-665, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27499521
8.
The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice?
Biochem Biophys Res Commun
; 503(4): 2770-2777, 2018 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30100055
9.
[Inclusion Body Myopathy, Paget's Disease, and Fronto-temporal Dementia: a VCP-related Multi-systemic Proteinopathy]. / Einschlusskörpermyopathie, Paget-Krankheit und frontotemporale Demenz: eine VCP-bedingte, multisystemische Proteinopathie.
Fortschr Neurol Psychiatr
; 86(7): 434-438, 2018 07.
Artigo
em Alemão
| MEDLINE | ID: mdl-30029282
10.
Aging-related mitochondrial dysfunction facilitates the occurrence of serious arrhythmia after myocardial infarction.
Biochem Biophys Res Commun
; 493(1): 604-610, 2017 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28867191
11.
TRANSPARENT TESTA GLABRA1 and GLABRA1 Compete for Binding to GLABRA3 in Arabidopsis.
Plant Physiol
; 168(2): 584-97, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25926482
12.
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.
Acta Neuropathol
; 132(3): 453-73, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27393313
13.
In vivo characterization of human myofibrillar myopathy genes in zebrafish.
Biochem Biophys Res Commun
; 461(2): 217-23, 2015 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-25866181
14.
VCP and PSMF1: Antagonistic regulators of proteasome activity.
Biochem Biophys Res Commun
; 463(4): 1210-7, 2015 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26086101
15.
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
Acta Neuropathol
; 129(2): 297-315, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25394388
16.
Coronin 2A (CRN5) expression is associated with colorectal adenoma-adenocarcinoma sequence and oncogenic signalling.
BMC Cancer
; 15: 638, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26373535
17.
Immortalised murine R349P desmin knock-in myotubes exhibit a reduced proton leak and decreased ADP/ATP translocase levels in purified mitochondria.
Eur J Cell Biol
; 103(2): 151399, 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38412640
18.
Desminopathies: pathology and mechanisms.
Acta Neuropathol
; 125(1): 47-75, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23143191
19.
Clinorotation inhibits myotube formation by fluid motion, not by simulated microgravity.
Eur J Cell Biol
; 102(2): 151330, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37290222
20.
Case Report: Muscle Wasting during Severe Sustained Hypoxia in Two Professional Mountaineers.
Med Sci Sports Exerc
; 55(3): 335-341, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36730975