2020
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy
Jones SA, McGovern M, Lidove O, Giugliani R, Mistry PK, Dionisi-Vici C, Munoz-Rojas MV, Nalysnyk L, Schecter AD, Wasserstein M. Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy. Molecular Genetics And Metabolism 2020, 131: 116-123. PMID: 32616389, DOI: 10.1016/j.ymgme.2020.06.008.Peer-Reviewed Original ResearchConceptsAcid sphingomyelinase deficiencyDisease burdenLipid profilePrevalent clinical featuresRespiratory-related complicationsAtherogenic lipid profileAbnormal lipid profileProgressive lung diseaseLung diffusion capacityEnzyme replacement therapyRare lysosomal storage disorderDiverse disease spectrumDegree of abnormalityNiemann-Pick diseaseLysosomal storage disorderLung functionClinical featuresClinical parametersReplacement therapyChronic formClinical burdenLung diseaseNeurovisceral diseaseSpleen volumeLiver fibrosis
2009
Protease activation during in vivo pancreatitis is dependent on calcineurin activation
Shah AU, Sarwar A, Orabi AI, Gautam S, Grant WM, Park AJ, Shah AU, Liu J, Mistry PK, Jain D, Husain SZ. Protease activation during in vivo pancreatitis is dependent on calcineurin activation. AJP Gastrointestinal And Liver Physiology 2009, 297: g967-g973. PMID: 20501444, PMCID: PMC2777459, DOI: 10.1152/ajpgi.00181.2009.Peer-Reviewed Original ResearchConceptsAcinar cellsProtease activationDependent phosphatase calcineurinHourly intraperitoneal injectionsCourse of pancreatitisAcinar cell vacuolizationCholecystokinin analogue caeruleinPhosphatase calcineurinHistological severityMyeloperoxidase activityPancreatic acinar cellsAcute pancreatitisIL-6Inhibitor FK506Pancreatic edemaSerum amylaseIntraperitoneal injectionPancreatitis inductionPancreatitis severityCalcineurin activationPancreatitisPathological riseCell vacuolizationDigestive proenzymesPremature activation