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Arthritis
Effect of quercetin on E-NTPDase/E-ADA activities and cytokine secretion of complete Freund adjuvant-induced arthritic rats.
Arthritis
Effect of Uncaria tomentosa extract on purinergic enzyme activities in lymphocytes of rats submitted to experimental adjuvant arthritis model.
Arthritis
Free and nanoencapsulated vitamin D3 : effects on E-NTPDase and E-ADA activities in an animal model with induced arthritis.
Arthritis, Experimental
Effect of Uncaria tomentosa extract on purinergic enzyme activities in lymphocytes of rats submitted to experimental adjuvant arthritis model.
Arthritis, Rheumatoid
Activities of enzymes that hydrolyze adenine nucleotides in lymphocytes from patients with rheumatoid arthritis.
Asthma
Decreased expression of ectonucleotidase E-NPP1 in leukocytes from subjects with severe asthma exacerbation.
Central Nervous System Diseases
Is Ecto-Nucleoside Triphosphate Diphosphohydrolase (NTPDase) Based Therapy of Central Nervous System Disorders Possible?
Chagas Disease
E-NTPDase and E-ADA activities are altered in lymphocytes of patients with indeterminate form of Chagas' disease.
Charcot-Marie-Tooth Disease
A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.
Charcot-Marie-Tooth Disease
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.
Charcot-Marie-Tooth Disease
A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth Disease
A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.
Charcot-Marie-Tooth Disease
A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.
Charcot-Marie-Tooth Disease
A role for the GDAP1 gene in the molecular pathogenesis of Charcot?Marie?Tooth disease.
Charcot-Marie-Tooth Disease
A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.
Charcot-Marie-Tooth Disease
Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.
Charcot-Marie-Tooth Disease
Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission.
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells.
Charcot-Marie-Tooth Disease
Childhood onset homozygous recessive GDAP1 (p.Pro231Leu) mutation in a 9-year-old puerto rican pediatric female with axonal Charcot-Marie-Tooth disease: A case report.
Charcot-Marie-Tooth Disease
Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
Charcot-Marie-Tooth Disease
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.
Charcot-Marie-Tooth Disease
Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.
Charcot-Marie-Tooth Disease
Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene.
Charcot-Marie-Tooth Disease
Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes.
Charcot-Marie-Tooth Disease
Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth Disease
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth Disease
GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth Disease
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
Charcot-Marie-Tooth Disease
Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene.
Charcot-Marie-Tooth Disease
Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth Disease
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth Disease
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype.
Charcot-Marie-Tooth Disease
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K).
Charcot-Marie-Tooth Disease
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
Charcot-Marie-Tooth Disease
Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency.
Charcot-Marie-Tooth Disease
Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1.
Charcot-Marie-Tooth Disease
Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease.
Charcot-Marie-Tooth Disease
Novel human pathological mutations. Gene symbol: GDAP1. Disease: Charcot-Marie-Tooth disease 4A.
Charcot-Marie-Tooth Disease
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.
Charcot-Marie-Tooth Disease
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth Disease
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth Disease
Structural and functional divergence of GDAP1 from the glutathione S-transferase superfamily.
Charcot-Marie-Tooth Disease
Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot-Marie-Tooth disease type 2 phenotype.
Charcot-Marie-Tooth Disease
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
Charcot-Marie-Tooth Disease
The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.
Charcot-Marie-Tooth Disease
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Charcot-Marie-Tooth Disease
Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.
Charcot-Marie-Tooth Disease
YY1-dependent transcriptional regulation of the human GDAP1 gene.
Ciliary Motility Disorders
E-NTPDases in human airways: Regulation and relevance for chronic lung diseases.
Clubfoot
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.
Congenital Abnormalities
Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy.
Congenital Abnormalities
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.
Cystic Fibrosis
E-NTPDases in human airways: Regulation and relevance for chronic lung diseases.
Demyelinating Diseases
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.
Demyelinating Diseases
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.
Demyelinating Diseases
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Demyelinating Diseases
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.
Foot Deformities
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
guanosine-diphosphatase deficiency
CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca(2+) entry-stimulated respiration.
guanosine-diphosphatase deficiency
Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease.
Hereditary Sensory and Motor Neuropathy
Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family.
Hereditary Sensory and Motor Neuropathy
[Molecular genetics of inherited neuropathies]
Hoarseness
Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.
Hypercholesterolemia
Hypercholesterolemia and Ecto-enzymes of Purinergic System: Effects of Paullinia cupana.
Hyperlipidemias
Pretreatment with quercetin prevents changes in lymphocytes E-NTPDase/E-ADA activities and cytokines secretion in hyperlipidemic rats.
Infections
E-NTPDase (ecto-nucleoside triphosphate diphosphohydrolase) of Leishmania amazonensis inhibits macrophage activation.
Infections
E-NTPDase and E-ADA activities in lymphocytes associated with the immune response of rats experimentally infected with Toxoplasma gondii.
Infections
Leishmania infantum ecto-nucleoside triphosphate diphosphohydrolase-2 is an apyrase involved in macrophage infection and expressed in infected dogs.
Leishmaniasis, Visceral
Recombinant Leishmania (Leishmania) infantum Ecto-Nucleoside Triphosphate Diphosphohydrolase NTPDase-2 as a new antigen in canine visceral leishmaniasis diagnosis.
Lung Diseases
E-NTPDases in human airways: Regulation and relevance for chronic lung diseases.
Lung Diseases
Overexpression of CD39 in Mouse Airways Promotes Bacteria-Induced Inflammation.
Lupus Erythematosus, Systemic
Activity and expression of E-NTPDase is altered in peripheral lymphocytes of systemic lupus erythematosus patients.
Mitochondrial Diseases
A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.
Muscle Weakness
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Muscular Atrophy
Case report: exome sequencing achieved a definite diagnosis in a Chinese family with muscle atrophy.
Myocardial Ischemia
CD39/ectonucleoside triphosphate diphosphohydrolase 1 provides myocardial protection during cardiac ischemia/reperfusion injury.
Myocardial Ischemia
Ectonucleotidase in sympathetic nerve endings modulates ATP and norepinephrine exocytosis in myocardial ischemia.
Neoplasm Metastasis
Mutant p53 promotes tumor progression and metastasis by the endoplasmic reticulum UDPase ENTPD5.
Neoplasms
ENTPD5, an Endoplasmic Reticulum UDPase, Alleviates ER Stress Induced by Protein Overloading in ATK-Activated Cancer Cells.
Neoplasms
ENTPD5-mediated modulation of ATP results in altered metabolism and decreased survival in gliomablastoma multiforme.
Neoplasms
Mutant p53 promotes tumor progression and metastasis by the endoplasmic reticulum UDPase ENTPD5.
Neoplasms
The Impact of Purinergic System Enzymes on Noncommunicable, Neurological, and Degenerative Diseases.
Neoplasms
YY1-dependent transcriptional regulation of the human GDAP1 gene.
Neuroblastoma
CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca(2+) entry-stimulated respiration.
Neuroblastoma
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
Neurodegenerative Diseases
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
Neuroinflammatory Diseases
Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1.
Ophthalmoplegia
Inherited mitochondrial neuropathies.
Ovarian Neoplasms
Sialyltransferase and nucleoside diphosphatase as markers for tumor monitoring.
Paralysis
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.
Paralysis
Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.
Paresis
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
Peripheral Nervous System Diseases
Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease.
Peripheral Nervous System Diseases
Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.
Peripheral Nervous System Diseases
Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission.
Peripheral Nervous System Diseases
GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.
Peripheral Nervous System Diseases
Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap1: implications for the Charcot-Marie-Tooth neuropathy.
Peripheral Nervous System Diseases
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
Peripheral Nervous System Diseases
Structural and functional divergence of GDAP1 from the glutathione S-transferase superfamily.
Peripheral Nervous System Diseases
The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.
Polyneuropathies
Inherited mitochondrial neuropathies.
Respiratory Insufficiency
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.
Sepsis
Sepsis induced by cecal ligation and perforation (CLP) alters nucleotidase activities in platelets of rats.
Thrombosis
Adenovirus-mediated transfer of human placental ectonucleoside triphosphate diphosphohydrolase to vascular smooth muscle cells suppresses platelet aggregation in vitro and arterial thrombus formation in vivo.
Thrombosis
CD39 is the dominant Langerhans cell-associated ecto-NTPDase: modulatory roles in inflammation and immune responsiveness.
Thrombosis
Human Placental Ectonucleoside Triphosphate Diphosphohydrolase Gene Transfer via Gelatin-Coated Stents Prevents In-Stent Thrombosis.
Tooth Diseases
Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family.
Vocal Cord Paralysis
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.
Vocal Cord Paralysis
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
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3.6.1.42 guanosine-diphosphatase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
