Results 91 to 100 of about 2,264 (140)

Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG). [PDF]

Mol Cell Proteomics, 2016
Thiesler CT, Cajic S, Hoffmann D, Thiel C, van Diepen L, Hennig R, Sgodda M, Weiβmann R, Reichl U, Steinemann D, Diekmann U, Huber NM, Oberbeck A, Cantz T, Kuss AW, Körner C, Schambach A, Rapp E, Buettner FF.   +18 more
europepmc   +1 more source

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies. [PDF]

Clin Chem, 2016
Zhang W, James PM, Ng BG, Li X, Xia B, Rong J, Asif G, Raymond K, Jones MA, Hegde M, Ju T, Cummings RD, Clarkson K, Wood T, Boerkoel CF, Freeze HH, He M.   +16 more
europepmc   +1 more source

Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. [PDF]

Mol Genet Genomic Med, 2013
Andreotti G, Pedone E, Giordano A, Cubellis MV.   +3 more
europepmc   +1 more source

Disease-specific growth charts capture characteristic growth patterns in children with PMM2 - CDG. [PDF]

Mol Genet Metab
Sarafoglou K, Lam C, Edmondson AC, Miller A, Starosta RT, Zeighami A, Horikoshi S, Vreugdenhil H, Scaglia F, Kozicz T, Tan QKG, Miller BS, Martínez-Duncker I, Berry GT, McWilliams P, Morava E, Addo Y.   +16 more
europepmc   +1 more source

Phosphomannomutase 1 restrains adipose thermogenic programming via inosine signaling. [PDF]

Mol Metab
Ye Y, Xu R, Liu T, Su Y, Lu X, Sun J, Zhao J, Lu Y, Yang Y, Han J.   +9 more
europepmc   +1 more source

Isolation and characterization of Avs-1, a bacteriophage effective against the aquaculture pathogen <i>Aeromonas veronii</i>. [PDF]

Appl Environ Microbiol
Li C, Liu J, Long X, Qian L, Xie J, Luo C, Yang X, He Y, Zhang Y, Cai H, Wang J, Yang F, Jang M, Liu H, Hu S.   +14 more
europepmc   +1 more source

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. [PDF]

Orphanet J Rare Dis
Douillard C, Poujois A, Belmatoug N, Lidove O, Leguy-Seguin V, Mauhin W, Gorce M, Cano A, Labrune P, Mazodier K, Wicker C, Maillot F, Brassier A, Guemann AS, Habes D, Abi-Warde MT, Redonnet-Vernhet I, Germain DP, Lavigne C, Khemiri A, Mention K, Dao M, Héron B, Berger MG, Lonlay P.   +24 more
europepmc   +1 more source

A Bifunctional Phosphoglucomutase/Phosphomannomutase from <i>Thermococcus kodakarensis</i>: Biophysical Analysis and Cryo-EM Structure. [PDF]

Biomolecules
Naz Z, Rathore I, Saleem M, Rahman M, Wlodawer A, Rashid N.   +5 more
europepmc   +1 more source

Albumin as a glycoprotein biomarker in congenital disorders of glycosylation. [PDF]

Mol Genet Metab
Garapati K, Jain A, Joshi N, Sachdeva GS, Nam D, Saraswat M, Pasupuleti RR, Schultz MJ, Kozicz T, Morava E, Pandey A.   +10 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