Results 21 to 30 of about 31,581 (280)

Pregnancy Outcomes in Late Onset Pompe Disease

Life, 2020
There is limited data on pregnancy outcomes in Pompe Disease (PD) resulting from deficiency of the lysosomal enzyme acid alpha-glucosidase. Late-onset PD is characterized by progressive proximal muscle weakness and decline of respiratory function ...
Ozlem Goker-Alpan, Vellore G. Kasturi, Maninder K. Sohi, Renuka P. Limgala, Stephanie L. Austin, Tabitha Jennelle, Maryam Banikazemi, Priya S. Kishnani   +7 more
doaj   +1 more source

Activation of mitochondrial TRAP1 stimulates mitochondria-lysosome crosstalk and correction of lysosomal dysfunction

iScience, 2022
Summary: Numerous studies have established the involvement of lysosomal and mitochondrial dysfunction in the pathogenesis of neurodegenerative disorders such as Alzheimer’s and Parkinson diseases. Building on our previous studies of the neurodegenerative
Fannie W. Chen, Joanna P. Davies, Raul Calvo, Jagruti Chaudhari, Georgia Dolios, Mercedes K. Taylor, Samarjit Patnaik, Jean Dehdashti, Rebecca Mull, Patricia Dranchack, Amy Wang, Xin Xu, Emma Hughes, Noel Southall, Marc Ferrer, Rong Wang, Juan J. Marugan, Yiannis A. Ioannou   +17 more
doaj   +1 more source

Biomarkers of Myocardial Fibrosis: Revealing the Natural History of Fibrogenesis in Fabry Disease Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2018
BackgroundCardiomyopathy is a major determinant of overall Fabry disease (FD) prognosis, with the worst outcomes in patients with myocardial fibrosis.
Patrício Aguiar, Olga Azevedo, Rui Pinto, Jacira Marino, Carlos Cardoso, Nuno Sousa, Damião Cunha, Derralynn Hughes, José Luís Ducla Soares   +8 more
doaj   +1 more source

A health state utility valuation study to assess the impact of treatment mode of administration in Gaucher disease

Orphanet Journal of Rare Diseases, 2018
Background This study aimed to obtain UK societal-based utility values for health states related to treatment mode of administration using Gaucher disease as the background condition.
Monica Hadi, Paul Swinburn, Luba Nalysnyk, Alaa Hamed, Atul Mehta   +4 more
doaj   +1 more source

A block of autophagy in lysosomal storage disorders [PDF]

Human Molecular Genetics, 2007
Most lysosomal storage disorders (LSDs) are caused by deficiencies of lysosomal hydrolases. While LSDs were among the first inherited diseases for which the underlying biochemical defects were identified, the mechanisms from enzyme deficiency to cell death are poorly understood.
SETTEMBRE C, FRALDI A, JAHREISS L, SPAMPANATO C, VENTURI C, MEDINA SANABRIA, Diego Luis, DE PABLO R, TACCHETTI C, RUBINSZTEIN DC, A. BALLABIO   +9 more
openaire   +5 more sources

Impaired autophagy: The collateral damage of lysosomal storage disorders

EBioMedicine, 2021
Lysosomal storage disorders (LSDs), which number over fifty, are monogenically inherited and caused by mutations in genes encoding proteins that are involved in lysosomal function.
Rachel Myerowitz, Rosa Puertollano, Nina Raben   +2 more
doaj   +1 more source

Achievements and beyond: Scientific trajectory of Professor Mohammad A. Rafi [PDF]

BioImpacts, 2021
This biography highlights the scientific trajectory of Professor Mohammad A. Rafi, Ph.D., who, in particular, has greatly advanced the field of neurodegenerative disorders during his long and successful tenure at Jefferson Medical College, Thomas ...
Yadollah Omidi, Abass Alavi
doaj   +1 more source

Acetyl-leucine slows disease progression in lysosomal storage disorders [PDF]

, 2020
Acetyl-DL-leucine is a derivative of the branched chain amino acid leucine. In observational clinical studies acetyl-DL-leucine improved symptoms of ataxia, in particular in patients with the lysosomal storage disorder, Niemann-Pick disease type C1. Here,
Cortina-Borja, M, Karl J Morten (16281605), Fineran, Paul, Smith, C, Spencer, John, Smith, De, Barry Boland (2011333), Platt, FM, Kaya, Ecem, Lauren Morris (2577274), Joanna Poulton (81462), Mario Cortina-Borja (130639), Smith, Claire, Brémovà-Ertl, Tatiana, Boland, Barry, Strupp, M, Strupp, Ml, Strupp, Michael, Spencer, J, Kaya, E, Boland, B, Morten, Karl J, Claire Smith (528058), Tatiana Bremova-Ertl (5639939), David A Smith (14591504), Ecem Kaya (9416438), Smith, DA, John Spencer (4461472), Bremova-Ertl, T, Poulton, Joanna, Paul Fineran (5639921), Morris, L, Platt, F, Cortina-Borja, Mario, Smith, David A, Poulton, J, Morris, Lauren, Frances M Platt (16212410), Platt, Frances M, Fineran, P, Morten, Kj, Michael Strupp (318710)   +41 more
core   +1 more source

CARDIOVASCULAR INVOLVEMENT IN POMPE DISEASE [PDF]

Romanian Journal of Pediatrics, 2017
Lysosomal storage diseases are a diverse group of monogenic disorders which are as defined by defects in lysosomal function. The heart is part of the clinical phenotype of lysosomal storage diseases.
Alina-Costina Luca, Elena Braha
doaj   +1 more source

Gaucher Disease—Correlation of Lyso-Gb1 with Haematology and Biochemical Parameters

Metabolites
Background/Objectives: Gaucher disease (GD) is a lysosomal disorder caused by a deficiency of β-glucosidase. Disease-modifying therapies (DMTs) include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Glucosylsphingosine (lyso-Gb1)
Simona D’Amore, Sneha Patel, Juniebel Cooke, Uma Ramaswami   +3 more
doaj   +1 more source