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[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2023
Phosphomannomutase 2 deficiency is the most common form of N-glycosylation disorders and is also known as phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG). It is an autosomal recessive disease with multi-system involvements and is caused by mutations in the PMM2 gene (OMIM: 601785), with varying severities in individuals. At present,
Zhou SY.
europepmc   +3 more sources

Targeted Disruption of the Mouse Phosphomannomutase 2 Gene Causes Early Embryonic Lethality [PDF]

Molecular and Cellular Biology, 2006
Mutations in the cytosolic enzyme phosphomannomutase 2 (PMM2), which catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate, cause the most common form of congenital disorders of glycosylation, termed CDG-Ia. It is an inherited multisystemic disease with severe neurological impairment.
Thiel, Christian, Lübke, Torben, Matthijs, Gert, von Figura, Kurt, Körner, Christian   +4 more
openaire   +5 more sources

Clinical utility gene card for: Phosphomannomutase 2 deficiency. [PDF]

Eur J Hum Genet, 2014
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Jaeken J, Lefeber D, Matthijs G.
europepmc   +5 more sources

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? [PDF]

Mol Genet Metab, 2021
PMM2-CDG is the most common congenital disorder of glycosylation (CDG) accounting for almost 65% of known CDG cases affecting N-glycosylation. Abnormalities in N-glycosylation could have a negative impact on many endocrine axes. There is very little known on the effect of impaired N-glycosylation on the hypothalamic-pituitary-adrenal axis function and ...
Čechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K.   +17 more
europepmc   +6 more sources

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up [PDF]

Journal of Inherited Metabolic Disease, 2019
AbstractPhosphomannomutase 2 (PMM2‐CDG) is the most common congenital disorder of N‐glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2‐CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor ...
Altassan, R., Peanne, R., Jaeken, J., Barone, R., Bidet, M., Borgel, D., Brasil, S., Cassiman, D., Cechova, A., Coman, D., Corral, J., Correia, J., de la Morena-Barrio, M.E., de Lonlay, P., Dos Reis, V., Ferreira, C.R., Fiumara, A., Francisco, R., Freeze, H., Funke, S., Gardeitchik, T., Gardeitchik, T., Gardeitchik, T., Gert, M., Girad, M., Giros, M., Grunewald, S., Hernandez-Caselles, T., Honzik, T., Hutter, M., Krasnewich, D., Lam, C., Lee, J., Lefeber, D.J., Marques-de-Silva, D., Martinez, A.F., Moravej, H., Ounap, K., Pascoal, C., Pascreau, T., Patterson, M., Quelhas, D., Raymond, K., Sarkhail, P., Schiff, M., Seroczynska, M., Serrano, M., Seta, N., Sykut-Cegielska, J., Thiel, C, Tort, F., Vals, M.A., Videira, P., Witters, P., Zeevaert, R., Morava, E.   +55 more
core   +12 more sources

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals [PDF]

Orphanet Journal of Rare Diseases, 2022
Background Congenital disorders of glycosylation (CDG) are a growing group of rare genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which often has a severe clinical presentation and life-limiting consequences.
C. Pascoal, I. Ferreira, C. Teixeira, E. Almeida, A. Slade, S. Brasil, R. Francisco, A. N. Ligezka, E. Morava, H. Plotkin, J. Jaeken, P. A. Videira, L. Barros, V. dos Reis Ferreira   +13 more
doaj   +2 more sources

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation. [PDF]

JCEM Case Rep
Abstract Phosphomannomutase 2–congenital disorder of glycosylation (PMM2-CDG) is a hereditary defect causing hypoglycosylation of N-linked glycoproteins. It was recently suggested that patients with PMM2-CDG may have central adrenal insufficiency.
Ødum SF, Grønborg SW, Main KM, Klose M.   +3 more
europepmc   +4 more sources

Beneficial effects of Glc-1,6-P2 modulation on mutant phosphomannomutase-2 [PDF]

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
The metabolite Glucose-1,6-bisphosphate (Glc-1,6-P2) plays a vital role in human metabolism, and is a crucial activator and stabilizer for phosphomannomutase-2 (PMM2) - mutations within this protein propagate the most common congenital disorder of glycosylation (PMM2-CDG).
Monticelli, Maria, Paris, Debora, Monti, Maria Chiara, Morretta, Elva, Pakanova, Zuzana, Nemcovic, Marek, Kodrikova, Rebeka, Cubellis, Maria Vittoria, Andreotti, Giuseppina   +8 more
openaire   +4 more sources

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2009
Congenital disorders of glycosylation are a clinically and genetically heterogeneous group of disorders resulting from abnormal glycosylation of various glycoconjugates. The first description of congenital disorders of glycosylation was published in the early 80s and once screening tests for glycosylation disorders (CDGs) became readily available, CDG ...
Stephanie Grunewald
exaly   +4 more sources

Peroxisomal fatty acid oxidation-related signature for predicting prognosis and therapeutic response in low-grade glioma [PDF]

Frontiers in Oncology
IntroductionMetabolic reprogramming is one of the hallmarks of cancer. Increasing evidence indicates that lipid metabolism reprogramming plays an important role in the development of tumors, especially glioma.
Xiaobin Zhou, Xiaobin Zhou, Hui Liang, Qinhong Huang, Qinhong Huang   +4 more
doaj   +2 more sources