Results 31 to 40 of about 8,108 (242)

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

SnapShot: Lysosomal Storage Diseases

Cell, 2020
Lysosomal storage diseases (LSDs) represent a group of monogenic inherited metabolic disorders characterized by the progressive accumulation of undegraded substrates inside lysosomes, resulting in aberrant lysosomal activity and homeostasis. This SnapShot summarizes the intracellular localization and function of proteins implicated in LSDs.
José A, Martina, Nina, Raben, Rosa, Puertollano   +2 more
openaire   +2 more sources

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency

Orphanet Journal of Rare Diseases, 2018
Background Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with sebelipase alpha has been approved by
Maja Di Rocco, Livia Pisciotta, Annalisa Madeo, Marta Bertamino, Stefano Bertolini   +4 more
doaj   +1 more source

Haematopoietic development and immunological function in the absence of cathepsin D [PDF]

, 2007
Background: Cathepsin D is a well-characterized aspartic protease expressed ubiquitously in lysosomes. Cathepsin D deficiency is associated with a spectrum of pathologies leading ultimately to death.
Calogero Tulone, Chain Benjamin M, Grosvenor Nicholas, Saftig, P, Marco Novelli, Uchiyama Yasuo, Novelli Marco, Saftig Paul, Chain, BM, Benjamin M Chain, Paul Saftig, Tulone, C, Nicholas Grosvenor, Yasuo Uchiyama, Uchiyama, Y, Tulone Calogero, Novelli, M, Grosvenor, N   +17 more
core   +1 more source

Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation

Nature Communications, 2023
Batten disease, one of the most devastating types of neurodegenerative lysosomal storage disorders, is caused by mutations in CLN3. Here, we show that CLN3 is a vesicular trafficking hub connecting the Golgi and lysosome compartments.
Alessia Calcagni’, Leopoldo Staiano, Nicolina Zampelli, Nadia Minopoli, Niculin J. Herz, Giuseppe Di Tullio, Tuong Huynh, Jlenia Monfregola, Alessandra Esposito, Carmine Cirillo, Aleksandar Bajic, Mahla Zahabiyon, Rachel Curnock, Elena Polishchuk, Luke Parkitny, Diego Luis Medina, Nunzia Pastore, Peter J. Cullen, Giancarlo Parenti, Maria Antonietta De Matteis, Paolo Grumati, Andrea Ballabio   +21 more
doaj   +1 more source

The Role of Exosomes in Lysosomal Storage Disorders

Biomolecules, 2021
Exosomes, small membrane-bound organelles formed from endosomal membranes, represent a heterogenous source of biological and pathological biomarkers capturing the metabolic status of a cell.
Adenrele M. Gleason, Elizabeth G. Woo, Cindy McKinney, Ellen Sidransky   +3 more
doaj   +1 more source

Lysosomal storage disease overview [PDF]

Annals of Translational Medicine, 2018
The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate. This storage process leads to a broad spectrum of clinical manifestations depending on the specific substrate and site of accumulation ...
openaire   +2 more sources

Nanoreporter Identifies Lysosomal Storage Disease Lipid Accumulation Intracranially

, 2023
Dysregulated lipid metabolism contributes to neurodegenerative pathologies and neurological decline in lysosomal storage disorders as well as more common neurodegenerative diseases. Niemann–Pick type A (NPA) is a fatal neurodegenerative lysosomal storage
Lauren E. Komer (17296221), Emma Grabarnik (17296224), Dana Goerzen (17296212), Daniel A. Heller (1341873), Merav Antman-Passig (2546317), Adriana Haimovitz-Friedman (218062), Rooshi Parikh (17296215), Savannah Chatman (17296218), Chen Chen (6544), Mickael Mathieu (17296227), Zvi Yaari (4808325)   +10 more
core   +2 more sources

Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism

EMBO Molecular Medicine, 2021
This work employs adult polyglucosan body disease (APBD) models to explore the efficacy and mechanism of action of the polyglucosan‐reducing compound 144DG11.
Or Kakhlon, Hilla Vaknin, Kumudesh Mishra, Jeevitha D’Souza, Monzer Marisat, Uri Sprecher, Shane Wald‐Altman, Anna Dukhovny, Yuval Raviv, Benny Da’adoosh, Hamutal Engel, Sandrine Benhamron, Keren Nitzan, Sahar Sweetat, Anna Permyakova, Anat Mordechai, Hasan Orhan Akman, Hanna Rosenmann, Alexander Lossos, Joseph Tam, Berge A. Minassian, Miguel Weil   +21 more
doaj   +1 more source

Types and Genetic Evaluation of Lysosomal Storage Diseases in Kurdistan Region

مجلة الكوفة الطبية
Background and objectives: Lysosomal storage diseases are a set of single-gene disorders that is attributed to insufficient certain lysosomal hydrolase activity or non-enzymatic proteins vital for typical lysosomal functions.
Lana Ahmed Mohammed
doaj   +1 more source