2017
Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease
Taguchi YV, Liu J, Ruan J, Pacheco J, Zhang X, Abbasi J, Keutzer J, Mistry PK, Chandra SS. Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease. Journal Of Neuroscience 2017, 37: 9617-9631. PMID: 28847804, PMCID: PMC5628407, DOI: 10.1523/jneurosci.1525-17.2017.Peer-Reviewed Original ResearchConceptsΑ-synuclein pathologyParkinson's diseaseCommon genetic risk factorGenetic risk factorsGaucher diseaseRisk factorsPD pathologyOligomeric α-synuclein speciesPD mouse brainPathological aggregationΑ-synuclein speciesHuman cellsAttractive therapeutic targetΑ-synuclein aggregationPrevalent neurodegenerative disorderGD patientsFunction mechanismPD riskMouse linesMutantsTherapeutic targetMutationsMouse brainNeurodegenerative disordersDisease
2012
Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis
Lo SM, Choi M, Liu J, Jain D, Boot RG, Kallemeijn WW, Aerts JM, Pashankar F, Kupfer GM, Mane S, Lifton RP, Mistry PK. Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. Blood 2012, 119: 4731-4740. PMID: 22493294, PMCID: PMC3367875, DOI: 10.1182/blood-2011-10-386862.Peer-Reviewed Original ResearchConceptsGenome analysisGenetic basisCancer phenotypeWhole exome captureNovel mutationsGenomic analysisPhenotype annotationsPhenotype diversityParallel sequencingHomozygosity mappingT-cell acute lymphoblastic lymphomaGenetic modifiersNovel insightsGene sequencingGaucher diseaseMalignancy phenotypeMutationsLysosomal accumulationPhenotypeHomozygous novel mutationPathogenic mutationsGenesMSH6 proteinsSequencingEnzyme studies
2010
Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease
Schilsky M, Mistry P. Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease. 2010, 1688-1693. DOI: 10.1093/med/9780199204854.003.120702.Peer-Reviewed Original Research
2001
Molecular Diagnosis of Wilson Disease
Butler P, McIntyre N, Mistry P. Molecular Diagnosis of Wilson Disease. Molecular Genetics And Metabolism 2001, 72: 223-230. PMID: 11243728, DOI: 10.1006/mgme.2000.3143.Peer-Reviewed Original ResearchConceptsDisease allelesMolecular diagnosisGenetic diagnosisATP7B geneExtreme diversityGenesConformation polymorphism analysisMutationsVariable disease manifestationsDNA analysisWD phenotypeBiochemical criteriaPolymorphism analysisNovel mutationsAllelesCommon mutationsWilson's diseaseWild-type statusDiversityPhenotypeSimilar ethnicityHeterozygote carriersH1069QRegionFamily
2000
Oxidative-phosphorylation defects in liver of patients with Wilson's disease
Gu M, Cooper J, Butler P, Walker A, Mistry P, Dooley J, Schapira A. Oxidative-phosphorylation defects in liver of patients with Wilson's disease. The Lancet 2000, 356: 469-474. PMID: 10981891, DOI: 10.1016/s0140-6736(00)02556-3.Peer-Reviewed Original ResearchConceptsTrans-Golgi networkP-type ATPaseOxidative phosphorylation defectsSevere mitochondrial dysfunctionWD proteinProtein functionMitochondrial functionAconitase activityMitochondrial dysfunctionWD pathogenesisEnergy metabolismOxidative damageEnzyme activityMitochondriaCopper accumulationATPaseEnzyme defectWilson's diseaseGolgiP-type copperProteinMutationsUse of antioxidantsDefectsFunction
1992
Genetic diagnosis of Gaucher's disease
Mistry PK, Smith SJ, Ali M, Cox T, Hatton C, McIntyre N. Genetic diagnosis of Gaucher's disease. The Lancet 1992, 339: 889-892. PMID: 1348297, DOI: 10.1016/0140-6736(92)90928-v.Peer-Reviewed Original ResearchConceptsWild-type alleleMolecular basisGene analysisPoint mutationsMutationsGaucher diseaseAshkenazi Jewish descentAmplification refractory mutation systemGlucocerebrosidase geneGenetic counsellingAllelesCommon mutationsGenetic diagnosisPolymerase chain reactionUnrelated patientsPseudogenesDiverse ethnic originsGlucocerebrosidaseGenesChain reactionMutation systemJewish descentPrimersRefractory mutation system