Results 131 to 140 of about 1,603 (150)

Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe

American Journal of Medical Genetics Part A, 2020
AbstractPhosphomannomutase 2 deficiency (PMM2‐CDG) is an autosomal recessive congenital disorder of glycosylation, characterized by multisystem phenotypes, mostly including neurological involvement. In Turkey, due to high rates of consanguinity, many patients with autosomal recessive disorders have homozygous variants and these diseases are more common,
Yılmaz Yıldız, Mutluay Arslan, Gökalp Çelik, Çiğdem Seher Kasapkara, Serdar Ceylaner, Ali Dursun, Hatice Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı   +8 more
openaire   +4 more sources

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG)

Journal of Inherited Metabolic Disease, 2011
Deficiency of phosphomannomutase (PMM2, MIM#601785) is the most common congenital disorder of glycosylation. Herein we report the genetic analysis of 22 Spanish PMM2 deficient patients and the functional analysis of 14 nucleotide changes in a prokaryotic expression system in order to elucidate their molecular pathogenesis.
Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B   +8 more
exaly   +6 more sources

Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency

2021
Portuguese Journal of Pediatrics, Vol. 52 No. 4 (2021)
Pinto Silva, Catarina, Almeida, Joana, Diogo, Luísa, Nobre, Susana   +3 more
openaire   +1 more source

Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate‐deficient glycoprotein syndrome type 1

Clinical Genetics, 1999
Carbohydrate‐deficient glycoprotein syndrome type 1 (CDG1) (MIM: 212065) is an autosomal recessive disorder with psychomotor retardation, strokelike episodes, ataxia, and olivopontocerebellar atrophy (OPCA) of neonatal onset. Recently, DNA substitutions in a gene for phosphomannomutase 2 (PMM2), mapped to 16p13, were identified in patients with CDG1 ...
I, Kondo, K, Mizugishi, Y, Yoneda, T, Hashimoto, K, Kuwajima, I, Yuasa, K, Shigemoto, Y, Kuroda   +7 more
openaire   +2 more sources

Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I

Brain and Development, 1999
Carbohydrate-deficient glycoprotein syndrome type I (CDG1) is an autosomal recessive disorder characterized by severe nervous system involvement and a carbohydrate moiety deficiency in N-linked glycoproteins. Clinical symptoms are psychomotor retardation, stroke-like episodes or hemorrhagic episodes, hepatic dysfunction, polyneuropathy, and cerebellar ...
K, Mizugishi, K, Yamanaka, K, Kuwajima, I, Yuasa, K, Shigemoto, I, Kondo   +5 more
openaire   +2 more sources

Towards a therapy for phosphomannomutase 2 deficiency: the prodrug approach for the delivery of alpha-glucose-1,6-bisphosphate

2019
Phosphomannomutase2 deficit, or PMM2-CDG, is the most common congenital disorder of glycosylation affecting over 1,000 patients globally and it is still without a cure. The majority of the mutations causing the disease destabilize PMM2, which, under physiological conditions, catalyses the conversion of mannose-6-phosphate into mannose- 1-phosphate ...
Sodano F, Rolando B, Rimoli MG, Cubellis MV, Monticelli M, Allocca M, Liguori L, Andreotti G, Lazzarato L   +8 more
openaire   +3 more sources

Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures

Journal of Inherited Metabolic Disease, 2022
Francisco del Caño-Ochoa, Alicia Vilas Lagoa, Adrian Velazquez-Campoy   +2 more
exaly  

Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 1999
Emile Van Schaftingen, Gert Matthijs, Jaak Jaeken   +2 more
exaly  

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

FEBS Letters, 1995
Emile Van Schaftingen
exaly  

Hypoglycosylation of Piezo1 and Cavα2δ subunit: relevance for neuronal excitability and neurological disorders associated to Phosphomannomutase 2 deficiency (PMM2-CDG)

The congenital disorders of glycosylation (CDGs) are a disease family caused by mutations in genes involved in the glycosylation pathways. PMM2-CDG, associated with mutations in the phosphomannomutase 2 (PMM2) gene, is the most common CDG subtype and presents with severe neurological alterations such as stroke-like episodes (SLEs).
openaire   +1 more source