262 related articles for article (PubMed ID: 24784135)
1. Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
Murakami Y; Tawamie H; Maeda Y; Büttner C; Buchert R; Radwan F; Schaffer S; Sticht H; Aigner M; Reis A; Kinoshita T; Jamra RA
PLoS Genet; 2014 May; 10(5):e1004320. PubMed ID: 24784135
[TBL] [Abstract][Full Text] [Related]
2. Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
Bosch DG; Boonstra FN; Kinoshita T; Jhangiani S; de Ligt J; Cremers FP; Lupski JR; Murakami Y; de Vries BB
Eur J Hum Genet; 2015 Dec; 23(12):1689-93. PubMed ID: 25804403
[TBL] [Abstract][Full Text] [Related]
3. Inositol deacylation of glycosylphosphatidylinositol-anchored proteins is mediated by mammalian PGAP1 and yeast Bst1p.
Tanaka S; Maeda Y; Tashima Y; Kinoshita T
J Biol Chem; 2004 Apr; 279(14):14256-63. PubMed ID: 14734546
[TBL] [Abstract][Full Text] [Related]
4. Abnormal ER quality control of neural GPI-anchored proteins via dysfunction in ER export processing in the frontal cortex of elderly subjects with schizophrenia.
Kim P; Scott MR; Meador-Woodruff JH
Transl Psychiatry; 2019 Jan; 9(1):6. PubMed ID: 30664618
[TBL] [Abstract][Full Text] [Related]
5. Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline.
Granzow M; Paramasivam N; Hinderhofer K; Fischer C; Chotewutmontri S; Kaufmann L; Evers C; Kotzaeridou U; Rohrschneider K; Schlesner M; Sturm M; Pinkert S; Eils R; Bartram CR; Bauer P; Moog U
Mol Cell Probes; 2015 Oct; 29(5):323-9. PubMed ID: 26050939
[TBL] [Abstract][Full Text] [Related]
6. PGAP1 knock-out mice show otocephaly and male infertility.
Ueda Y; Yamaguchi R; Ikawa M; Okabe M; Morii E; Maeda Y; Kinoshita T
J Biol Chem; 2007 Oct; 282(42):30373-80. PubMed ID: 17711852
[TBL] [Abstract][Full Text] [Related]
7. AtPGAP1 functions as a GPI inositol-deacylase required for efficient transport of GPI-anchored proteins.
Bernat-Silvestre C; Sánchez-Simarro J; Ma Y; Montero-Pau J; Johnson K; Aniento F; Marcote MJ
Plant Physiol; 2021 Dec; 187(4):2156-2173. PubMed ID: 34618080
[TBL] [Abstract][Full Text] [Related]
8. A lipid scramblase TMEM41B is involved in the processing and transport of GPI-anchored proteins.
Cao SY; Liu YS; Gao XD; Kinoshita T; Fujita M
J Biochem; 2023 Jul; 174(2):109-123. PubMed ID: 37279648
[TBL] [Abstract][Full Text] [Related]
9.
Liu YS; Guo XY; Hirata T; Rong Y; Motooka D; Kitajima T; Murakami Y; Gao XD; Nakamura S; Kinoshita T; Fujita M
J Cell Biol; 2018 Feb; 217(2):585-599. PubMed ID: 29255114
[TBL] [Abstract][Full Text] [Related]
10. Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L; Tawamie H; Murakami Y; Mang Y; ur Rehman S; Buchert R; Schaffer S; Muhammad S; Bak M; Nöthen MM; Bennett EP; Maeda Y; Aigner M; Reis A; Kinoshita T; Tommerup N; Baig SM; Abou Jamra R
Am J Hum Genet; 2013 Apr; 92(4):575-83. PubMed ID: 23561846
[TBL] [Abstract][Full Text] [Related]
11. Molecular basis of the inositol deacylase PGAP1 involved in quality control of GPI-AP biogenesis.
Hong J; Li T; Chao Y; Xu Y; Zhu Z; Zhou Z; Gu W; Qu Q; Li D
Nat Commun; 2024 Jan; 15(1):8. PubMed ID: 38167496
[TBL] [Abstract][Full Text] [Related]
12. Glycosylphosphatidylinositol Anchor Modification Machinery Deficiency Is Responsible for the Formation of Pro-Prion Protein (PrP) in BxPC-3 Protein and Increases Cancer Cell Motility.
Yang L; Gao Z; Hu L; Wu G; Yang X; Zhang L; Zhu Y; Wong BS; Xin W; Sy MS; Li C
J Biol Chem; 2016 Feb; 291(8):3905-17. PubMed ID: 26683373
[TBL] [Abstract][Full Text] [Related]
13. Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review.
Kettwig M; Elpeleg O; Wegener E; Dreha-Kulaczewski S; Henneke M; Gärtner J; Huppke P
BMC Neurol; 2016 May; 16():74. PubMed ID: 27206732
[TBL] [Abstract][Full Text] [Related]
14. A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
Segel R; Aran A; Gulsuner S; Nakamura H; Rosen T; Walsh T; Denda H; Zeligson S; Eto K; Beeri R; Okai H; King MC; Levy-Lahad E; Funato K; Renbaum P
Neurogenetics; 2020 Oct; 21(4):259-267. PubMed ID: 32462292
[TBL] [Abstract][Full Text] [Related]
15. Fatty acid remodeling of GPI-anchored proteins is required for their raft association.
Maeda Y; Tashima Y; Houjou T; Fujita M; Yoko-o T; Jigami Y; Taguchi R; Kinoshita T
Mol Biol Cell; 2007 Apr; 18(4):1497-506. PubMed ID: 17314402
[TBL] [Abstract][Full Text] [Related]
16. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
Makrythanasis P; Kato M; Zaki MS; Saitsu H; Nakamura K; Santoni FA; Miyatake S; Nakashima M; Issa MY; Guipponi M; Letourneau A; Logan CV; Roberts N; Parry DA; Johnson CA; Matsumoto N; Hamamy H; Sheridan E; Kinoshita T; Antonarakis SE; Murakami Y
Am J Hum Genet; 2016 Apr; 98(4):615-26. PubMed ID: 26996948
[TBL] [Abstract][Full Text] [Related]
17. Calnexin mediates the maturation of GPI-anchors through ER retention.
Guo XY; Liu YS; Gao XD; Kinoshita T; Fujita M
J Biol Chem; 2020 Nov; 295(48):16393-16410. PubMed ID: 32967966
[TBL] [Abstract][Full Text] [Related]
18. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SC; Blennow E; Bergmann M; Stödberg T; Mäkitie O; Anderlid BM; Bryceson YT; Nordenskjöld M; Nordgren A
J Med Genet; 2013 Aug; 50(8):521-8. PubMed ID: 23636107
[TBL] [Abstract][Full Text] [Related]
19. Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
Zhao JJ; Halvardson J; Knaus A; Georgii-Hemming P; Baeck P; Krawitz PM; Thuresson AC; Feuk L
Hum Mutat; 2017 Oct; 38(10):1394-1401. PubMed ID: 28581210
[TBL] [Abstract][Full Text] [Related]
20. Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
Knaus A; Kortüm F; Kleefstra T; Stray-Pedersen A; Đukić D; Murakami Y; Gerstner T; van Bokhoven H; Iqbal Z; Horn D; Kinoshita T; Hempel M; Krawitz PM
Am J Hum Genet; 2019 Aug; 105(2):395-402. PubMed ID: 31353022
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
