Detalhe da pesquisa
1.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet
; 108(11): 2130-2144, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653363
2.
TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient.
Mol Genet Metab
; 142(1): 108469, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38564972
3.
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
Am J Med Genet A
; 191(9): 2428-2432, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37462082
4.
N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.
J Inherit Metab Dis
; 46(1): 76-91, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36102038
5.
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Genet Med
; 24(4): 894-904, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35042660
6.
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ann Neurol
; 90(6): 887-900, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34652821
7.
TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels.
J Inherit Metab Dis
; 45(6): 1039-1047, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36047296
8.
Sustained, complete response to pexidartinib in a patient with CSF1R-mutated Erdheim-Chester disease.
Am J Hematol
; 97(3): 293-302, 2022 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34978715
9.
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Mol Genet Metab
; 132(1): 27-37, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33129689
10.
Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.
Mol Genet Metab
; 131(4): 424-429, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33187827
11.
Architecture of the Human Mitochondrial Iron-Sulfur Cluster Assembly Machinery.
J Biol Chem
; 291(40): 21296-21321, 2016 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27519411
12.
Architecture of the Yeast Mitochondrial Iron-Sulfur Cluster Assembly Machinery: THE SUB-COMPLEX FORMED BY THE IRON DONOR, Yfh1 PROTEIN, AND THE SCAFFOLD, Isu1 PROTEIN.
J Biol Chem
; 291(19): 10378-98, 2016 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26941001
13.
Missense mutations linked to friedreich ataxia have different but synergistic effects on mitochondrial frataxin isoforms.
J Biol Chem
; 288(6): 4116-27, 2013 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23269675
14.
Normal transferrin glycosylation does not rule out severe ALG1 deficiency.
JIMD Rep
; 65(3): 135-143, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38736633
15.
Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker.
Front Genet
; 15: 1363558, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38770420
16.
Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.
Genes (Basel)
; 14(8)2023 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37628636
17.
Could distal variants in ALG13 lead to atypical clinical presentation?
Eur J Med Genet
; 65(4): 104473, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35240324
18.
Slc26a9 is inhibited by the R-region of the cystic fibrosis transmembrane conductance regulator via the STAS domain.
J Biol Chem
; 284(41): 28306-28318, 2009 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-19643730
19.
Defining the Architecture of the Core Machinery for the Assembly of Fe-S Clusters in Human Mitochondria.
Methods Enzymol
; 595: 107-160, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28882199
20.
Structural studies of the Nudix hydrolase DR1025 from Deinococcus radiodurans and its ligand complexes.
J Mol Biol
; 339(1): 103-16, 2004 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-15123424