Detalhe da pesquisa
1.
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism.
Hum Mol Genet
; 29(11): 1864-1881, 2020 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31984424
2.
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Ann Neurol
; 88(1): 18-32, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32219868
3.
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
PLoS Genet
; 14(2): e1007210, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29444077
4.
NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models.
Hum Mol Genet
; 23(20): 5353-63, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24852368
5.
PI-PLCß1b affects Akt activation, cyclin E expression, and caspase cleavage, promoting cell survival in pro-B-lymphoblastic cells exposed to oxidative stress.
FASEB J
; 29(4): 1383-94, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25550457
6.
Effect of mechanical strain on the collagen VI pericellular matrix in anterior cruciate ligament fibroblasts.
J Cell Physiol
; 229(7): 878-86, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24356950
7.
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
Brain
; 141(1): e3, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29228108
8.
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Brain Commun
; 3(2): fcab063, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34056600
9.
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
J Clin Invest
; 131(6)2021 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33465056
10.
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis.
Front Genet
; 11: 860, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32849836
11.
Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
Sci Rep
; 10(1): 10398, 2020 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32576919
12.
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
Sci Rep
; 10(1): 4785, 2020 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32179840
13.
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.
Neurol Genet
; 6(3): e428, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32548275
14.
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
J Clin Invest
; 130(1): 108-125, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31550240
15.
Novel mutations in DNA2 associated with myopathy and mtDNA instability.
Ann Clin Transl Neurol
; 6(9): 1893-1899, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31478350
16.
Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson's Disease Models.
Cell Rep
; 22(8): 2066-2079, 2018 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29466734
17.
Incomplete penetrance in mitochondrial optic neuropathies.
Mitochondrion
; 36: 130-137, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28716668
18.
Collagen VI-NG2 axis in human tendon fibroblasts under conditions mimicking injury response.
Matrix Biol
; 55: 90-105, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26944560
19.
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness.
Neurol Genet
; 5(3): e329, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31119195
20.
Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene.
Front Aging Neurosci
; 6: 215, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25191266