PMC Links for OMIM (Select 610273) - PMC - NCBI

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Items: 3

Select item 105690591.

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl Inositol deficiency due to a PIGM promoter mutation

Ben Pode-Shakked, Gali Heimer, Thierry Vilboux, Dina Marek-Yagel, Bruria Ben-Zeev, Mariska Davids, Carlos R. Ferreira, Amit Mary Philosoph, Alvit Veber, Naomi Pode-Shakked, Gili Kenet, Michalle Soudack, Chen Hoffmann, Helly Vernitsky, Marina Safaniev, Maya Lodzki, Avishay Lahad, Dror S. Shouval, Dana Levinkopf, Batia Weiss, Assaf Arie Barg, Ayman Daka, Ninette Amariglio, May Christine V. Malicdan, William A. Gahl, Yair Anikster

Mol Genet Metab. Author manuscript; available in PMC 2023 Oct 12.

Published in final edited form as: Mol Genet Metab. 2019 Sep-Oct; 128(1-2): 151–161. Published online 2019 Aug 14. doi: 10.1016/j.ymgme.2019.08.003

PMCID:: PMC10569059

Abstract Article PDF–2.0M

Select item 42314222.

Cell-type–specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency

Joana R. Costa, Valentina S. Caputo, Kalliopi Makarona, D. Mark Layton, Irene A. G. Roberts, Antonio M. Almeida, Anastasios Karadimitris

Blood. 2014 Nov 13; 124(20): 3151–3154. Prepublished online 2014 Oct 7. doi: 10.1182/blood-2014-09-598813

PMCID:: PMC4231422

Abstract Article

Select item 1401823.

PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER

Yusuke Maeda, Reika Watanabe, Claire L. Harris, Yeongjin Hong, Kazuhito Ohishi, Keiko Kinoshita, Taroh Kinoshita

EMBO J. 2001 Jan 15; 20(1-2): 250–261. doi: 10.1093/emboj/20.1.250

PMCID:: PMC140182

Abstract Article PDF–558K

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