Detalhe da pesquisa
1.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Brain
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38456468
2.
Genome-wide CRISPR screen reveals CLPTM1L as a lipid scramblase required for efficient glycosylphosphatidylinositol biosynthesis.
Proc Natl Acad Sci U S A
; 119(14): e2115083119, 2022 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35344438
3.
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(4): 739-748, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33711248
4.
Ethanolamine-phosphate on the second mannose is a preferential bridge for some GPI-anchored proteins.
EMBO Rep
; 23(7): e54352, 2022 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35603428
5.
Sequential hydrolysis of FAD by ecto-5' nucleotidase CD73 and alkaline phosphatase is required for uptake of vitamin B2 into cells.
J Biol Chem
; 298(12): 102640, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36309091
6.
Loss of the N-acetylgalactosamine side chain of the GPI-anchor impairs bone formation and brain functions and accelerates the prion disease pathology.
J Biol Chem
; 298(3): 101720, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35151686
7.
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Am J Hum Genet
; 106(4): 484-495, 2020 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32220290
8.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36322149
9.
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.
Blood
; 137(26): 3660-3669, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33763700
10.
Macroscopic and multiple metastases in sentinel lymph node biopsy are respectively associated with poor prognosis in early oral cancer.
Int J Clin Oncol
; 28(4): 512-520, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36795281
11.
C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.
Hum Genet
; 141(8): 1423-1429, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35107634
12.
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
Am J Hum Genet
; 105(2): 395-402, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353022
13.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256876
14.
Hrd1-dependent Degradation of the Unassembled PIGK Subunit of the GPI Transamidase Complex.
Cell Struct Funct
; 46(2): 65-71, 2021 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34193731
15.
PGAP6, a GPI-specific phospholipase A2, has narrow substrate specificity against GPI-anchored proteins.
J Biol Chem
; 295(42): 14501-14509, 2020 10 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32816994
16.
PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
Hum Genet
; 140(6): 879-884, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33386993
17.
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Am J Hum Genet
; 103(4): 602-611, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269814
18.
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
J Med Genet
; 57(12): 808-819, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32409512
19.
Functional Analysis of the GPI Transamidase Complex by Screening for Amino Acid Mutations in Each Subunit.
Molecules
; 26(18)2021 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34576938
20.
[Advances in research for pathogenesis of paroxysmal nocturnal hemoglobinuria].
Rinsho Ketsueki
; 62(8): 944-953, 2021.
Artigo
em Japonês
| MEDLINE | ID: mdl-34497235