Exploitation of Host Cell Biology and Evasion of Immunity by Francisella Tularensis [PDF]
, 2011 Francisella tularensis is an intracellular bacterium that infects humans and many small mammals. During infection, F. tularensis replicates predominantly in macrophages but also proliferate in other cell types. Entry into host cells is mediate by various
Rexford Asare, Yousef Abu Kwaik
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Orphanet Journal of Rare Diseases, 2017 Background We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS).
Natalia Lourdes Serrano +11 more
doaj +1 more source
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder [PDF]
, 2021 We describe a genetic syndrome due to PGM2L1 deficiency. PGM2 and PGM2L1 make hexose-bisphosphates, like glucose-1,6-bisphosphate, which are indispensable cofactors for sugar phosphomutases.
Abbott, Mary Alice +15 more
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Additional file 1 of Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)
, 2020 Additional file 1: Figure S1. Layout showing the metabolic fate of mannose in mammalian cells. PMM2 is an essential enzyme catalyzing the conversion of mannose-6-phosphate to mannose-1- phosphate, which is the first step in the synthesis. Figure S2.
Taday, Roman +4 more
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Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes
The Journal of Physiology, EarlyView.Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière +6 more
wiley +1 more source
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models
Cell ReportsSummary: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a rare inborn error of metabolism caused by deficiency of the PMM2 enzyme, which leads to impaired protein glycosylation.
Silvia Radenkovic +13 more
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Proteostasis regulators as potential rescuers of PMM2 activity [PDF]
, 2020 Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-glycosylation disorder. To date there is no treatment. Following the identification of a number of destabilizing pathogenic variants, our group suggested PMM2-CDG to be a conformational ...
Gallego, D. +7 more
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Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies [PDF]
, 2022 ©. This manuscript version is made available under the CC-BY-NC 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/ This document is the, Accepted, version of a Published Work that appeared in final form in Glycobiology.
Alsina, Laia +10 more
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Drug Repositioning for Congenital Disorders of Glycosylation (CDG) [PDF]
, 2022 R.F. and acknowledge the funding from the Fundação para a Ciência e Tecnologia (FCT), Portugal. S.B. was supported by CDG & Allies—PAIN funding. M.A. acknowledges PhD program at the DISTABIF, Università degli Studi della Campania “Luigi Vanvitelli”, PhD
Allocca, Mariateresa +14 more
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Regulation of dolichol-linked glycosylation [PDF]
, 2018 In the majority of congenital disorders of glycosylation, the assembly of the glycan precursor GlcNAc2Man9Glc3 on the polyprenol carrier dolichyl-pyrophosphate is compromised.
Welti, Michael
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