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Argininosuccinic Aciduria
Both the concentration and redox state of glutathione and ascorbate influence the sensitivity of arabidopsis to cadmium.
Chagas Disease
Trypanosoma cruzi Phosphomannomutase and Guanosine Diphosphate-Mannose Pyrophosphorylase Ligandability Assessment.
Cystic Fibrosis
Alginate biosynthetic enzymes in mucoid and nonmucoid Pseudomonas aeruginosa: overproduction of phosphomannose isomerase, phosphomannomutase, and GDP-mannose pyrophosphorylase by overexpression of the phosphomannose isomerase (pmi) gene.
Epilepsy, Generalized
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
Epileptic Syndromes
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
Eye Abnormalities
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of ?-dystroglycan.
Hypersensitivity
A mutation in GDP-mannose pyrophosphorylase causes conditional hypersensitivity to ammonium, resulting in Arabidopsis root growth inhibition, altered ammonium metabolism, and hormone homeostasis.
Hypersensitivity
GDP-mannose pyrophosphorylase is a genetic determinant of ammonium sensitivity in Arabidopsis thaliana.
Hypersensitivity
Toward the mechanism of NH(4) (+) sensitivity mediated by Arabidopsis GDP-mannose pyrophosphorylase.
Infections
Ascorbic acid deficiency in arabidopsis induces constitutive priming that is dependent on hydrogen peroxide, salicylic acid, and the NPR1 gene.
Intellectual Disability
Expanding the phenotype of GMPPB mutations.
Intellectual Disability
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
Leishmaniasis
GDP-Mannose Pyrophosphorylase: A Biologically Validated Target for Drug Development Against Leishmaniasis.
Leishmaniasis
Insight into the self-association of key enzymes from pathogenic species.
mannose-1-phosphate guanylyltransferase deficiency
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
Muscle Weakness
Mutations in GMPPB Presenting with Pseudometabolic Myopathy.
Muscular Diseases
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Muscular Diseases
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
Muscular Diseases
Mutations in GMPPB Presenting with Pseudometabolic Myopathy.
Muscular Diseases
Trouble at the junction: When myopathy and myasthenia overlap.
Muscular Dystrophies
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
Muscular Dystrophies
A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission.
Muscular Dystrophies
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).
Muscular Dystrophies
Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
Muscular Dystrophies
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome.
Muscular Dystrophies
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
Muscular Dystrophies
Integrative data mining highlights candidate genes for monogenic myopathies.
Muscular Dystrophies
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Muscular Dystrophies
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
Muscular Dystrophies
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Muscular Dystrophies
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
Muscular Dystrophies, Limb-Girdle
Expanding the phenotype of GMPPB mutations.
Muscular Dystrophies, Limb-Girdle
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Muscular Dystrophies, Limb-Girdle
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
Muscular Dystrophies, Limb-Girdle
Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review.
Muscular Dystrophies, Limb-Girdle
Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T.
Muscular Dystrophies, Limb-Girdle
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
Muscular Dystrophies, Limb-Girdle
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of ?-dystroglycan.
Muscular Dystrophies, Limb-Girdle
Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction.
Muscular Dystrophies, Limb-Girdle
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
Muscular Dystrophies, Limb-Girdle
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
Myasthenic Syndromes, Congenital
A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission.
Myasthenic Syndromes, Congenital
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Myasthenic Syndromes, Congenital
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
Myasthenic Syndromes, Congenital
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome.
Myasthenic Syndromes, Congenital
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
Myasthenic Syndromes, Congenital
Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T.
Myasthenic Syndromes, Congenital
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
Myasthenic Syndromes, Congenital
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
Myasthenic Syndromes, Congenital
Trouble at the junction: When myopathy and myasthenia overlap.
Myopathies, Structural, Congenital
A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission.
Parasitic Diseases
Insight into the self-association of key enzymes from pathogenic species.
Rhabdomyolysis
Expanding the phenotype of GMPPB mutations.
Sarcoglycanopathies
Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
Walker-Warburg Syndrome
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Walker-Warburg Syndrome
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).
Walker-Warburg Syndrome
Steroid therapy in an alpha-dystroglycanopathy due to GMPPB gene mutations: A case report.
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Carss, K.J.; Stevens, E.; Foley, A.R.; Cirak, S.; Riemersma, M.; Torelli, S.; Hoischen, A.; Willer, T.; van Scherpenzeel, M.; Moore, S.A.; Messina, S.; Bertini, E.; Boennemann, C.G.; Abdenur, J.E.; Grosmann, C.M.; Kesari, A.; Punetha, J.; Quinlivan, R.; Waddell, L.B.; Young, H.K.; Wraige, E.; Yau, S.; Bro, L. et al.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan
Am. J. Hum. Genet.
93
29-41
2013
Danio rerio (Q6DBU5), Danio rerio, Homo sapiens (Q9Y5P6)
brenda
Daligaux, P.; Bernadat, G.; Tran, L.; Cave, C.; Loiseau, P.; Pomel, S.; Ha-Duong, T.
Comparative study of structural models of Leishmania donovani and human GDP-mannose pyrophosphorylases
Eur. J. Med. Chem.
107
109-118
2016
Leishmania donovani (E9BG32), Homo sapiens (Q9Y5P6), Leishmania donovani BPK282A1 (E9BG32)
brenda
Carss, K.J.; Stevens, E.; Foley, A.R.; Cirak, S.; Riemersma, M.; Torelli, S.; Hoischen, A.; Willer, T.; van Scherpenzeel, M.; Moore, S.A.; Messina, S.; Bertini, E.; Boennemann, C.G.; Abdenur, J.E.; Grosmann, C.M.; Kesari, A.; Punetha, J.; Quinlivan, R.; Waddell, L.B.; Young, H.K.; Wraige, E.; Yau, S.; et, al.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan
Am. J. Hum. Genet.
93
29-41
2013
Homo sapiens (Q9Y5P6)
brenda
Pomel, S.; Mao, W.; Ha-Duong, T.; Cave, C.; Loiseau, P.
GDP-mannose pyrophosphorylase A biologically validated target for drug development against leishmaniasis
Front. Cell. Infect. Microbiol.
9
186
2019
Homo sapiens, Leishmania donovani, Leishmania mexicana
brenda