Clinical case of lysosomic acid lipase deficiency – cholesterol ethers accumulation diseases
Лечащий Врач, 2022 Lysosomal acid lipase deficiency is a rare hereditary fermentopathy. Cholesterol ester accumulation disease – one of the two forms of lysosomal acid lipase deficiency – is a hereditary autosomal recessive lysosomal accumulation disease caused by ...
E. V. Savelieva +6 more
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AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease [PDF]
, 2017 Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy.
Alvino, Filomena Grazia +13 more
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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’ +21 more
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Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report [PDF]
, 2019 We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting in cholesteryl ester accumulation in
Bobbert, Thomas +8 more
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Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America
Genetics and Molecular Biology, 2014 This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available.
Roberto Giugliani +11 more
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Cell and Gene Therapies for Mucopolysaccharidoses: Base Editing and Therapeutic Delivery to the CNS
Diseases, 2019 Although individually uncommon, rare diseases collectively account for a considerable proportion of disease impact worldwide. A group of rare genetic diseases called the mucopolysaccharidoses (MPSs) are characterized by accumulation of partially degraded
Chloe L. Christensen +2 more
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Enzyme replacement therapies: What is the best option? [PDF]
, 2018 Despite many beneficial outcomes of the conventional enzyme replacement therapy (ERT), several limitations such as the high-cost of the treatment and various inadvertent side effects including the occurrence of an immunological response against the ...
Barar, Jaleh +4 more
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GM1 Gangliosidosis Type 1 and Mongolian Spots
Pediatric Neurology Briefs, 2013 Investigators in Sao Paulo, Brazil, report a female infant born at term to healthy consanguineous parents who was examined at 9 months for delayed development.
J Gordon Millichap
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Lyso-IP: Uncovering Pathogenic Mechanisms of Lysosomal Dysfunction
Biomolecules, 2022 Lysosomes are ubiquitous membrane-bound organelles found in all eukaryotic cells. Outside of their well-known degradative function, lysosomes are integral in maintaining cellular homeostasis. Growing evidence has shown that lysosomal dysfunction plays an
Chase Chen, Ellen Sidransky, Yu Chen
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Orphanet Journal of Rare Diseases, 2021 Over the past three decades the lysosomal storage diseases have served as model for rare disease treatment development. While these efforts have led to considerable success, important challenges remain.
Edward H. Schuchman +2 more
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