Results 161 to 170 of about 4,129 (176)

Identification of a IVS4 -58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene

Human Mutation, 2000
S, Vuillaumier-Barrot, C L, Bizec, G, Durand, B, Grandchamp, N, Seta   +4 more
openaire   +2 more sources

Activity of phosphomannomutase 2 in patients with suspected congenital disorder of glycosylation

Klinická biochemie a metabolismus, 2016
H Hansíková, N Ondrušková, T Honzík, K Veselá, E Horová, Š Švecová, M Tesařová, J Zeman   +7 more
openaire   +1 more source

Molecular and functional analysis of phosphomannomutase (PMM) from higher plants and genetic evidence for the involvement of PMM in ascorbic acid biosynthesis in Arabidopsis and Nicotiana benthamiana

Plant Journal, 2007
Weiqiang Qian, Huanju Qin, Elisabeth Johansen   +2 more
exaly  

Conformational Response to Ligand Binding in Phosphomannomutase2

Journal of Biological Chemistry, 2014
Giuseppina Andreotti, Israel Cabeza de Vaca, Victor Guallar   +2 more
exaly  

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

FEBS Letters, 1995
Emile Van Schaftingen
exaly  

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

Nature Genetics, 1997
Gert Matthijs, Els Pardon, Maria Veiga-da-Cunha   +2 more
exaly  

Molecular characterisation and biochemical properties of phosphomannomutase/phosphoglucomutase (PMM/PGM) in the brown seaweed Saccharina japonica

Journal of Applied Phycology, 2018
Zhanru Shao, Delin Duan
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 2-congenital disorder of glycosylation presenting with very early onset inflammatory bowel disease

Indian Journal of Gastroenterology
Meltem Comert, Tugba Guler, Anna Carina Ergani, Meltem Gumus, Ebru Marzioglu Ozdemir, Hasibe Artac   +5 more
openaire   +2 more sources

Molecular cloning and functional analysis of the phosphomannomutase (PMM) gene from Dendrobium officinale and evidence for the involvement of an abiotic stress response during germination

Protoplasma, 2016
Song-Jun Zeng, Jaime A Teixeira Da Silva, Zhenming Yu   +2 more
exaly