Detalhe da pesquisa
1.
Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.
Acta Neuropathol
; 145(2): 235-255, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36512060
2.
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
Acta Neuropathol
; 145(1): 127-143, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36264506
3.
CBP-mediated SMN acetylation modulates Cajal body biogenesis and the cytoplasmic targeting of SMN.
Cell Mol Life Sci
; 75(3): 527-546, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28879433
4.
Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D.
Hum Mol Genet
; 24(23): 6588-602, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26362252
5.
Prion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones.
Hum Mol Genet
; 23(1): 157-70, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23962724
6.
The SMN Tudor SIM-like domain is key to SmD1 and coilin interactions and to Cajal body biogenesis.
J Cell Sci
; 127(Pt 5): 939-46, 2014 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24413165
7.
Myopathy-causing mutations in an HSP40 chaperone disrupt processing of specific client conformers.
J Biol Chem
; 289(30): 21120-30, 2014 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-24920671
8.
LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials.
Ann Clin Transl Neurol
; 10(2): 181-194, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36427278
9.
DNAJB6 isoform specific knockdown: Therapeutic potential for limb girdle muscular dystrophy D1.
Mol Ther Nucleic Acids
; 32: 937-948, 2023 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37346979
10.
Nuclear speckles are involved in nuclear aggregation of PABPN1 and in the pathophysiology of oculopharyngeal muscular dystrophy.
Neurobiol Dis
; 46(1): 118-29, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22249111
11.
Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy.
Histochem Cell Biol
; 137(5): 657-67, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22302308
12.
Nucleolar targeting of coilin is regulated by its hypomethylation state.
Chromosoma
; 119(5): 527-40, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20449600
13.
Cajal's contribution to the knowledge of the neuronal cell nucleus.
Chromosoma
; 118(4): 437-43, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19404660
14.
Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy.
J Clin Invest
; 130(8): 4470-4485, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32427588
15.
Mutations in the J domain of DNAJB6 cause dominant distal myopathy.
Neuromuscul Disord
; 30(1): 38-46, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31955980
16.
TDP-43 localizes in mRNA transcription and processing sites in mammalian neurons.
J Struct Biol
; 167(3): 235-41, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19539030
17.
Nuclear compartmentalization and dynamics of the poly(A)-binding protein nuclear 1 (PABPN1) inclusions in supraoptic neurons under physiological and osmotic stress conditions.
Mol Cell Neurosci
; 37(3): 622-33, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18255312
18.
Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D.
Neurol Genet
; 5(2): e318, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31123706
19.
Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks.
Nat Commun
; 9(1): 5342, 2018 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-30559338
20.
Hsp70 chaperones and type I PRMTs are sequestered at intranuclear inclusions caused by polyalanine expansions in PABPN1.
PLoS One
; 4(7): e6418, 2009 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-19641605