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Clin Res Hepatol Gastroenterol 2021 Mar 1;45(6):101638. Epub 2021 Mar 1.

Graduate Program in Gastroenterology and Hepatology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Experimental Laboratory of Hepatology and Gastroenterology, Experimental Research Center, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Division of Gastroenterology, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

Introduction And Objective: Metabolic associated fatty liver disease (MAFLD), characterized by intra-hepatic fat accumulation, will soon be the leading cause of end-stage liver disease. Lysosomal Acid Lipase (LAL) is a key enzyme in lipid metabolism. We investigated its activity in patients with biopsy-proven MAFLD. Read More

J Biol Chem 2021 Mar 1:100489. Epub 2021 Mar 1.

Université de Côte d'Azur, Institut de Pharmacologie Moléculaire et Cellulaire UMR7275 CNRS, Laboratoire d'Excellence Distalz, Sophia-Antipolis, 06560 Valbonne, France.

Genetic, biochemical and anatomical grounds led to the proposal of the amyloid cascade hypothesis centered on the accumulation of amyloid beta peptides (Aβ) to explain Alzheimer's disease (AD) etiology. In this context a bulk of efforts have aimed at developing therapeutic strategies seeking to reduce Aβ levels, either by blocking its production (γ- and β-secretase inhibitors) or by neutralizing it once formed (Aβ-directed immunotherapies). However, so far the vast majority, if not all, clinical trials based on these strategies have failed, since they have not been able to restore cognitive function in AD patients, and even in many cases, they have worsened the clinical picture. Read More

Am J Respir Cell Mol Biol 2021 Mar 4. Epub 2021 Mar 4.

National Jewish Health, 2930, Medicine, Denver, Colorado, United States.

Deficiency of acid sphingomyelinase (ASM) causes the lysosomal storage Niemann-Pick disease (NPD). NPD type B patients may develop progressive interstitial lung disease with frequent respiratory infections. Although several investigations using the ASM deficient (ASMKO) mouse NPD model revealed inflammation and foamy macrophages, there is little insight into the pathogenesis of NPD-associated lung disease. Read More

PLoS One 2021 4;16(3):e0247846. Epub 2021 Mar 4.

Division of Genetics, Department of Pediatrics, University of California, San Diego, La Jolla, California, United States of America.

Importance: Development of noninvasive methodology to reproducibly measure tissue cystine crystal load to assess disease status and guide clinical care in cystinosis, an inherited lysosomal storage disorder characterized by widespread cystine crystal accumulation.

Objective: To develop an unbiased and semi-automated imaging methodology to quantify dermal cystine crystal accumulation in patients to correlate with disease status.

Design, Setting And Participants: 101 participants, 70 patients and 31 healthy controls, were enrolled at the University of California, San Diego, Cystinosis Clinics, Rady Children's Hospital, San Diego and at the annual Cystinosis Research Foundation family conference for an ongoing prospective longitudinal cohort study of cystinosis patients with potential yearly follow-up. Read More

J Inherit Metab Dis 2021 Mar 4. Epub 2021 Mar 4.

Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.

Fabry disease (FD) is an X-linked lysosomal storage disorder. Deficiency of the lysosomal enzyme alpha-galactosidase (GLA) leads to accumulation of potentially toxic globotriaosylceramide (Gb3) on a multisystem level. Cardiac and cerebrovascular abnormalities as well as progressive renal failure are severe, life-threatening long-term complications. Read More