Intravenous enzyme replacement therapy in mucopolysaccharidoses: clinical effectiveness and limitations
R Parini, F Deodato - International Journal of Molecular Sciences, 2020 - mdpi.com
The aim of this review is to summarize the evidence on efficacy, effectiveness and safety of
intravenous enzyme replacement therapy (ERT) available for mucopolysaccharidoses …
intravenous enzyme replacement therapy (ERT) available for mucopolysaccharidoses …
The molecular origins and pathophysiological consequences of micronuclei: New insights into an age-old problem
Micronuclei (MN), the small nucleus-like bodies separated from the primary nucleus, can
exist in cells with numerical and/or structural chromosomal aberrations in apparently normal …
exist in cells with numerical and/or structural chromosomal aberrations in apparently normal …
[HTML][HTML] iPS-derived neural stem cells for disease modeling and evaluation of therapeutics for mucopolysaccharidosis type II
Abstract Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare,
lysosomal disorder caused by mutations in a gene encoding iduronate-2-sulfatase (IDS) …
lysosomal disorder caused by mutations in a gene encoding iduronate-2-sulfatase (IDS) …
Evidence of redox imbalance and mitochondrial dysfunction in Niemann-Pick type C 1 patients: the in vitro effect of combined therapy with antioxidants and β …
TG Hammerschmidt, B Donida, M Raabe… - Metabolic Brain …, 2023 - Springer
Abstract Niemann-Pick C disease (NPC) is an autosomal recessive genetic disorder
resulting from mutation in one of two cholesterol transport genes: NPC1 or NPC2, causing …
resulting from mutation in one of two cholesterol transport genes: NPC1 or NPC2, causing …
Oxidative stress in mucopolysaccharidoses: pharmacological implications
K Pierzynowska, L Gaffke, Z Cyske, G Węgrzyn… - Molecules, 2021 - mdpi.com
Although mucopolysaccharidoses (MPS) are caused by mutations in genes coding for
enzymes responsible for degradation of glycosaminoglycans, storage of these compounds …
enzymes responsible for degradation of glycosaminoglycans, storage of these compounds …
Beneficial in vitro effect of N-acetylcysteine and coenzyme Q10 on DNA damage in neurodegenerative Niemann-Pick type C 1 disease: Preliminary results
TG Hammerschmidt, GB Guerreiro, B Donida… - Naunyn-Schmiedeberg's …, 2023 - Springer
Abstract Niemann-Pick type C1 (NP-C1) is a lysosomal storage disease (LSD) caused by
mutations in NPC1 gene that lead to defective synthesis of the respective lysosomal …
mutations in NPC1 gene that lead to defective synthesis of the respective lysosomal …
The mucopolysaccharidoses: prenatal diagnosis, neonatal screening and emerging therapies
LA Clarke - Genetic Disorders and the Fetus, 2021 - Wiley Online Library
The rapid emergence and integration of effective therapies for many of the
mucopolysaccharidoses (MPSs) has fueled a resurgence in the establishment of strategies …
mucopolysaccharidoses (MPSs) has fueled a resurgence in the establishment of strategies …
Micronúcleos y anormalidades nucleares en células epiteliales orales: Herramienta eficaz y sencilla en la detección temprana de individuos altamente susceptibles a …
O Torres-Bugarín, RS Martínez… - Revista Bio …, 2024 - revistabiociencias.uan.edu.mx
Los micronúcleos pueden estar en todas las células que sufran división celular, estos son
pequeños fragmentos de DNA nuclear ubicados erróneamente en el citoplasma, con …
pequeños fragmentos de DNA nuclear ubicados erróneamente en el citoplasma, con …