Search results for "VAPB"

showing 2 items of 2 documents

Sporadic ALS is not associated with VAPB gene mutations in Southern Italy

2006

Abstract Mutations in the Cu/Zn superoxide dismutase (Sod1) gene have been reported to cause adult-onset autosomal dominant Amyotrophic Lateral Sclerosis (FALS). In sporadic cases (SALS) de novo mutations in the Sod1 gene have occasionally been observed. The recent finding of a mutation in the VAMP/synaptobrevin-associated membrane protein B (VAPB) gene as the cause of amyotrophic lateral sclerosis (ALS8), prompted us to investigate the entire coding region of this gene in SALS patients. One hundred twenty-five unrelated patients with adult-onset ALS and 150 healthy sex-age-matched subjects with the same genetic background were analyzed. Genetic analysis for all exons of the VAPB gene by DH…

AdultMaleSOD1Vesicular Transport ProteinsGlutamic AcidBiologyGene mutationmedicine.disease_causeGenetic analysisGeneral Biochemistry Genetics and Molecular BiologyPharmacology Toxicology and Pharmaceutics(all)03 medical and health sciencesExon0302 clinical medicineGene FrequencymedicineHumansCoding regionGeneral Pharmacology Toxicology and PharmaceuticsGeneAged030304 developmental biologyMedicine(all)Aged 80 and overGeneticsAspartic Acid0303 health sciencesMutationBase SequenceBiochemistry Genetics and Molecular Biology(all)Brief ReportAmyotrophic Lateral SclerosisGenetic VariationExonsGeneral MedicineMiddle AgedVAPBMolecular biologyIntrons3. Good healthAmino Acid SubstitutionItalyCase-Control StudiesMutationFemale030217 neurology & neurosurgeryJournal of Negative Results in BioMedicine
researchProduct

Expression of vesicle-associated membrane-protein-associated protein B cleavage products in peripheral blood leukocytes and cerebrospinal fluid of pa…

2013

Background and purpose Vesicle-associated membrane-protein-associated protein B (VAPB) is an endoplasmic reticulum (ER) resident protein participating in ER function, vesicle trafficking, calcium homeostasis and lipid transport. Its N-terminal domain, named MSP, is cleaved and secreted, serving as an extracellular ligand. VAPB mutations are linked to autosomal-dominant motor neuron diseases, including amyotrophic lateral sclerosis (ALS) type 8. An altered VAPB function is also suspected in sporadic ALS (SALS). Methods The expression pattern of VAPB cleavage and secreted products in the peripheral blood leukocytes (PBL) and cerebrospinal fluid (CSF) of SALS patients and neurological controls…

MalePathologymedicine.medical_specialtyamyotrophic lateral sclerosisnematode major sperm proteinproteolysisVesicular Transport ProteinsStatistics Nonparametriccerebrospinal fluidCerebrospinal fluidparasitic diseasesLeukocytesmedicineHumansperipheral blood leukocytesSecretionAmyotrophic lateral sclerosisAgedbiologybusiness.industryEndoplasmic reticulumvesicle-associated membrane-protein-associated protein AMiddle AgedVAPBmedicine.diseaseMolecular biologyvesicle-associated membrane-protein-associated protein Bamyotrophic lateral sclerosis cerebrospinal fluid nematode major sperm protein peripheral blood leukocytes proteolysis vesicleassociated membraneprotein- associated protein A vesicleassociated membraneprotein- associated protein BMolecular WeightBlotSettore BIO/12 - Biochimica Clinica E Biologia Molecolare ClinicaVesicle-associated membrane proteinNeurologyMutationbiology.proteinSettore MED/26 - NeurologiaFemaleNeurology (clinical)Antibodybusiness
researchProduct