Results 31 to 40 of about 6,268,347 (286)

Lysosomal membrane integrity in fibroblasts derived from patients with Gaucher disease

Cell Structure and Function, 2023
Gaucher disease (GD) is a recessively inherited lysosomal storage disorder characterized by a deficiency of lysosomal glucocerebrosidase (GBA1). This deficiency results in the accumulation of its substrate, glucosylceramide (GlcCer), within lysosomes ...
Asuka Hamamoto, Natsuki Kita, Siddabasave Gowda B. Gowda, Hiroyuki Takatsu, Kazuhisa Nakayama, Makoto Arita, Shu-Ping Hui, Hye-Won Shin   +7 more
doaj   +1 more source

Characterization and downstream mannose phosphorylation of human recombinant α-L-iduronidase produced in Arabidopsis complex glycan-deficient (cgl) seeds [PDF]

, 2013
This work was supported by a Wellcome Trust award to TMG.Mucopolysaccharidosis (MPS) I is a lysosomal storage disease caused by a deficiency of α-L-iduronidase (IDUA) (EC 3.2.1.76); enzyme replacement therapy is the conventional treatment for this ...
Brooks, Doug, Gloster, Tracey M., Vocadlo, D.J., Brooks, D., Kolarich, Daniel, Kermode, Allison R, Kermode, Allison R., Haselhorst, T., Qian, Y., Gloster, Tracey M, Qian, Yi, Gloster, Tracey, Kolarich, D., Haselhorst, Thomas, Packer, N.H., Pierce, Owen, He, X., von Itzstein, Mark, Gloster, T.M., Packer, Nicolle H., He, Xu, Pierce, O., Packer, Nicolle H, Vocadlo, David J, von Itzstein, M., Kermode, A.R., Vocadlo, David J.   +26 more
core   +1 more source

Lysosomal Storage Disease (LSDs) [PDF]

, 2015
How to Cite this Article: Ghofrani M. Lysosomal Storage Disease (LSDs). Iran J Child Neurol.
GHOFRANI, Mohammad
core   +1 more source

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

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

Lysosomal Storage Disease [PDF]

, 2012
How to Cite this Article: Ghofrani M. Lysosomal Storage Disease. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):1-2. For Reading more pls see PDF  
GHOFRANI, Mohammad
core   +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

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   +2 more sources

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

Exacerbating and reversing lysosomal storage diseases: from yeast to humans [PDF]

, 2017
Lysosomal storage diseases (LSDs) arise from monogenic deficiencies in lysosomal proteins and pathways and are characterized by a tissue-wide accumulation of a vast variety of macromolecules, normally specific to each genetic lesion.
Tamayanthi Rajakumar, Andrew B. Munkacsi, Stephen L. Sturley   +2 more
core   +1 more source