Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.
about
Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiencyMannose metabolism: more than meets the eye.Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2Endocrine manifestations related to inherited metabolic diseases in adults.Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.Protein misfolding diseases: prospects of pharmacological treatment.Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutationsGenetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.CDG Therapies: From Bench to Bedside.The Analysis of Variants in the General Population Reveals That Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers
P2860
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P2860
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Expression analysis revealing ...... nalysis of PMM2-CDG mutations.
@en
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency
@nl
type
label
Expression analysis revealing ...... nalysis of PMM2-CDG mutations.
@en
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency
@nl
prefLabel
Expression analysis revealing ...... nalysis of PMM2-CDG mutations.
@en
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency
@nl
P2093
P2860
P1476
Expression analysis revealing ...... nalysis of PMM2-CDG mutations.
@en
P2093
Alejandra Gámez
Ana Isabel Vega
Belén Pérez
Celia Pérez-Cerdá
Lourdes R Desviat
Magdalena Ugarte
Paz Briones
Rafael Artuch
P2860
P2888
P304
P356
10.1007/S10545-011-9328-2
P50
P577
2011-05-04T00:00:00Z