Results 121 to 130 of about 24,426,163 (152)

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes. [PDF]

Mol Genet Metab
Verberkmoes S, Mazza GL, Edmondson AC, Scaglia F, Horikoshi S, Kuschel B, Janssen MCH, Mousa J, Larson A, Shah R, McDonald G, Sarafoglou K, Berry G, Kozicz T, Lam C, Morava E.   +15 more
europepmc   +1 more source

Role of the <i>Mycoplasma bovis deoC</i> gene in nucleoside catabolism and host cell survival. [PDF]

Appl Environ Microbiol
Geng S, Elahee Doomun SN, Hondrogiannis J, De Souza DP, Kanci Condello A, Browning GF, Klose SM, Tivendale KA, Wawegama NK.   +8 more
europepmc   +1 more source

Nitrogen-modulated intercropping boosts yield and quality in Codonopsis pilosula. [PDF]

BMC Plant Biol
Xing Y, Huang M, Miao H, Wang Q, Zhang Q, Yang Z, Huang G.   +6 more
europepmc   +1 more source

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

Genetic and structural validation of phosphomannomutase as a cell wall target in Aspergillus fumigatus [PDF]

Molecular Microbiology, 2021
Aspergillus fumigatus is an opportunistic mold responsible for severe life-threatening fungal infections in immunocompromised patients. The cell wall, an essential structure composed of glucan, chitin, and galactomannan, is considered to be a target for ...
Wenxia Fang, Daan van Aalten, Andrew Ferenbach   +2 more
exaly   +2 more sources

The reaction mechanism of phosphomannomutase in plants [PDF]

FEBS Letters, 1997
The enzyme phosphomannomutase catalyzes the interconversion of mannose-1-phosphate (Man-1-P) and mannose-6-phosphate (Man-6-P). In mammalian cells the enzyme has to be activated by transfer of a phosphate group from a sugar-1.6-P2 (Guha, S.K. and Rose, Z.
C Schnarrenberger, W Gross
exaly   +2 more sources

Some of the next articles are maybe not open access.

Related searches:

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

Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes

Pediatric Nephrology, 2021
Co-occurrence of polycystic kidney disease and hyperinsulinemic hypoglycemia has been reported in children in a few families associated with a variant in the promotor of the PMM2 gene, at position -167 upstream of the coding sequence. PMM2 encodes phosphomannomutase 2, a key enzyme in N-glycosylation.
Guillaume Dorval, Cécile Jeanpierre, Vincent Morinière, Carole Tournant, Bettina Bessières, Tania Attié-Bittach, Jeanne Amiel, Emmanuel Spaggari, Yves Ville, Elodie Merieau, Marie-Claire Gubler, Sophie Saunier, Laurence Heidet   +12 more
openaire   +2 more sources

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency

Molecular Genetics and Metabolism, 2012
We report on the seventh known patient with S-adenosylhomocysteine hydrolase (SAHH) deficiency presenting at birth with features resembling phosphomannomutase 2 (PMM2-CDG Ia) deficiency. Plasma methionine and total homocysteine levels were normal at 2 months and increased only after the 8th month of age.
Honzik, Tomas, Magner, Martin, Krijt, Jakub, Sokolova, Jitka, Vugrek, Oliver, Belužić, Robert, Barić, Ivo, Hansikova, Hana, Elleder, Milan, Vesela, Katerina, Bauerova, Lenka, Ondruskova, Nina, Jesina, Pavel, Zeman, Jiri, Kozich, Viktor   +14 more
openaire   +4 more sources

Screening for mutations in phosphomannomutase 2 (PMM2) gene

Glycoconjugate journal, 2005
Congenital disorder of glycosylation (CDG) Ia (MIM≠ 212065) is an autosomal recessive multi-organ disease characterized by severe dysfunction of central and peripheral nervous system. It is caused by a defective N-linked glycosylation due to phosphomannomutase (PMM) deficiency as a consequence of mutations in PMM2 gene. More than 85 different mutations
Šupraha-Goreta, Sandra, Štimac, Hrvoje, Flogel-Mršić, Mirna, Dumić, Jerka   +3 more
openaire   +2 more sources