Results 1 to 10 of about 238,356 (198)

Lysosomal Storage Disease

Journal of Nepal Medical Association, 2009
We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old boy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in all four limbs with hyper-refl exia.
Binod Khatiwada, A Pokharel
doaj   +4 more sources

Phenotype assessment for neurodegenerative murine models with ataxia and application to Niemann–Pick disease, type C1

Biology Open, 2022
Identifying meaningful predictors of therapeutic efficacy from preclinical studies is challenging. However, clinical manifestations occurring in both patients and mammalian models offer significant translational value.
Julia Yerger, Antony C. Cougnoux, Craig B. Abbott, Rachel Luke, Tannia S. Clark, Niamh X. Cawley, Forbes D. Porter, Cristin D. Davidson   +7 more
doaj   +1 more source

The Biology of Lysosomes: From Order to Disorder

Biomedicines, 2023
Since its discovery in 1955, the understanding of the lysosome has continuously increased. Once considered a mere waste removal system, the lysosome is now recognised as a highly crucial cellular component for signalling and energy metabolism.
Olga Amaral, Mariana Martins, Ana Rita Oliveira, Ana Joana Duarte, Inês Mondragão-Rodrigues, M. Fátima Macedo   +5 more
doaj   +1 more source

The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling

Molecular Genetics and Metabolism Reports, 2020
Type 1 Gaucher disease (GD1) patients with the N370S/R496H (N409S/R535H) genotype are increasingly identified through carrier and newborn screening panels. However, limited information is available on the phenotype associated with this genotype. Here, we
Natasha Zeid, Chanan Stauffer, Amy Yang, Hetanshi Naik, Luca Fierro, Jaya Ganesh, Manisha Balwani   +6 more
doaj   +1 more source

Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center

eLife, 2023
Background: A salutary effect of treatments for Gaucher disease (GD) has been a reduction in the incidence of avascular osteonecrosis (AVN). However, there are reports of AVN in patients receiving enzyme replacement therapy (ERT) , and it is not known ...
Mohsen Basiri, Mohammad E Ghaffari, Jiapeng Ruan, Vagishwari Murugesan, Nathaniel Kleytman, Glenn Belinsky, Amir Akhavan, Andrew Lischuk, Lilu Guo, Katherine Klinger, Pramod K Mistry   +10 more
doaj   +1 more source

Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)

Animals, 2023
Glycogen storage disease type II (Pompe disease: PD) is an autosomal recessively inherited fatal genetic disorder that results from the deficiency of a glycogen hydrolyzing enzyme, acid α-glucosidase encoded by the GAA gene.
Tofazzal Md Rakib, Md Shafiqul Islam, Shigeki Tanaka, Akira Yabuki, Shahnaj Pervin, Shinichiro Maki, Abdullah Al Faruq, Martia Rani Tacharina, Osamu Yamato   +8 more
doaj   +1 more source

Carnitine is a pharmacological allosteric chaperone of the human lysosomal α-glucosidase

Journal of Enzyme Inhibition and Medicinal Chemistry, 2021
Pompe disease is an inherited metabolic disorder due to the deficiency of the lysosomal acid α-glucosidase (GAA). The only approved treatment is enzyme replacement therapy with the recombinant enzyme (rhGAA).
Roberta Iacono, Nadia Minopoli, Maria Carmina Ferrara, Antonietta Tarallo, Carla Damiano, Caterina Porto, Sandra Strollo, Véronique Roig-Zamboni, Gianfranco Peluso, Gerlind Sulzenbacher, Beatrice Cobucci-Ponzano, Giancarlo Parenti, Marco Moracci   +12 more
doaj   +1 more source

Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literature

JIMD Reports, 2020
Introduction New neurological symptoms in methylmalonic acidemia (MMA) patients after liver and/or kidney transplantation (LKT) are often described as metabolic stroke‐like‐events.
Femke Molema, Monique Williams, Janneke Langendonk, Sarwa Darwish‐Murad, Jacqueline van deWetering, Ed Jacobs, Willem Onkenhout, Esther Brusse, Anke van derEerden, Margreet Wagenmakers   +9 more
doaj   +1 more source

Brain cell type specific proteomics approach to discover pathological mechanisms in the childhood CNS disorder mucolipidosis type IV

Frontiers in Molecular Neuroscience, 2023
Mucolipidosis IV (MLIV) is an ultra-rare, recessively inherited lysosomal disorder resulting from inactivating mutations in MCOLN1, the gene encoding the lysosomal cation channel TRPML1.
Madison Sangster, Sanjid Shahriar, Zachary Niziolek, Maria Carla Carisi, Michael Lewandowski, Bogdan Budnik, Yulia Grishchuk   +6 more
doaj   +1 more source

Lysosomal Lipid Storage Diseases [PDF]

Cold Spring Harbor Perspectives in Biology, 2011
Lysosomal lipid storage diseases, or lipidoses, are inherited metabolic disorders in which typically lipids accumulate in cells and tissues. Complex lipids, such as glycosphingolipids, are constitutively degraded within the endolysosomal system by soluble hydrolytic enzymes with the help of lipid binding proteins in a sequential manner.
Schulze, H., Sandhoff, K.
openaire   +2 more sources