Results 11 to 20 of about 21,042 (237)

Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria. [PDF]

FEBS Lett, 2018
Pande S, Bizilj W, Guo HC.
europepmc   +3 more sources

Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease

Orphanet Journal of Rare Diseases, 2022
Background Neuronopathic Gaucher Disease (nGD) describes the condition of a subgroup of patients with the Lysosomal Storage Disorder (LSD), Gaucher disease with involvement of the central nervous system (CNS) which results from inherited deficiency of β ...
Aimee Donald, Cecilia Kämpe Björkvall, Ashok Vellodi, GAUCHERITE Consortium, Timothy M. Cox, Derralyn Hughes, Simon A. Jones, Robert Wynn, Maciej Machaczka   +8 more
doaj   +1 more source

Lysosomal storage diseases in the era of COVID-19: a report of an Egyptian case of alpha-fucosidosis and a summary of the lysosomal storage diseases-COVID-19 relationship

Egyptian Journal of Medical Human Genetics, 2022
Background We present a case of alpha-fucosidosis, a lysosomal storage disorder, from Egypt. The report also includes a brief review of the COVID-19 and lysosomal storage diseases relationship.
Heba Saed El-Amawy, Heba Dawoud
doaj   +1 more source

A Novel Retinal Gene Therapy Strategy for Batten Disease and Beyond

Proceedings, 2020
Batten Disease is a fatal lysosomal storage disorder characterized by cognitive and [...]
Maura Schwartz, Alex Campbell, Joseph Caporale, Megan Baird, Isabella Palazzo, Shibi Likhite, Andrew Fischer, Kathrin Meyer   +7 more
doaj   +1 more source

Inhibition of the Niemann-Pick C1 protein is a conserved feature of multiple strains of pathogenic mycobacteria

Nature Communications, 2022
Lipids shed by pathogenic mycobacteria have been shown to inhibit NPC1, a lysosomal membrane protein deficient in most cases of a rate inherited lysosomal storage disorder Niemann-Pick disease type C (NPC).
Yuzhe Weng, Dawn Shepherd, Yi Liu, Nitya Krishnan, Brian D. Robertson, Nick Platt, Gerald Larrouy-Maumus, Frances M. Platt   +7 more
doaj   +1 more source

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

Targeting neuronal lysosomal dysfunction caused by β-glucocerebrosidase deficiency with an enzyme-based brain shuttle construct

Nature Communications, 2023
Mutations in glucocerebrosidase cause the lysosomal storage disorder Gaucher’s disease and are the most common risk factor for Parkinson’s disease. Therapies to restore the enzyme’s function in the brain hold great promise for treating the neurological ...
Alexandra Gehrlein, Vinod Udayar, Nadia Anastasi, Martino L. Morella, Iris Ruf, Doris Brugger, Sophia von der Mark, Ralf Thoma, Arne Rufer, Dominik Heer, Nina Pfahler, Anton Jochner, Jens Niewoehner, Luise Wolf, Matthias Fueth, Martin Ebeling, Roberto Villaseñor, Yanping Zhu, Matthew C. Deen, Xiaoyang Shan, Zahra Ehsaei, Verdon Taylor, Ellen Sidransky, David J. Vocadlo, Per-Ola Freskgård, Ravi Jagasia   +25 more
doaj   +1 more source

Anaesthetic management of a child with cystinosis

Egyptian Journal of Anaesthesia, 2017
Cystinosis is a lysosomal storage disorder which is characterized by abnormal accumulation of amino acid cysteine. Cystinosis affects various tissues of the body and has several anesthetic implications.
Shilpi Verma, Vandana Sharma, Pradeep K. Bhatia, Nikhil Kothari   +3 more
doaj   +1 more source

Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice

Molecular Therapy: Methods & Clinical Development, 2018
Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB [MPS IIIB]) is a lysosomal storage disorder primarily affecting the brain that is caused by a deficiency in the enzyme α-N-acetylglucosaminidase (NAGLU), leading to intralysosomal accumulation ...
Don Clarke, Yewande Pearse, Shih-hsin Kan, Steven Q. Le, Valentina Sanghez, Jonathan D. Cooper, Patricia I. Dickson, Michelina Iacovino   +7 more
doaj   +1 more source

Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders

Molecular Genetics and Metabolism Reports, 2018
Totally implantable vascular access devices (TIVADs) are commonly used in conjunction with enzyme replacement therapy (ERT) for lysosomal storage disorders (LSDs).
Christian J. Hendriksz, Paul Harmatz, Roberto Giugliani, Jane Roberts, G. Suren Arul   +4 more
doaj   +1 more source