Zobrazeno 1 - 10
of 6 595
pro vyhledávání: '"lysosomal storage disease"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract Many strategies have been developed to produce high levels of biologically active recombinant proteins in plants for biopharmaceutical purposes. However, the production of an active form of human iduronate-2-sulfatase (hIDS) for the treatmen
Externí odkaz:
https://doaj.org/article/01a02d8b864a4f0097f6165e2d2e6b75
Autor:
Moeenaldeen AlSayed, Dia Arafa, Huda Al-Khawajha, Manal Afqi, Nouriya Al-Sanna’a, Rawda Sunbul, Maha Faden
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Mucopolysaccharidosis type IVa (Morquio A syndrome) and mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) are rare inherited lysosomal storage diseases associated with significant functional impairment and a wide spectrum of
Externí odkaz:
https://doaj.org/article/dab5608ea1f248e486e4e7a51035729b
Publikováno v:
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-12 (2024)
Abstract Background Cystinosis, a rare autosomal recessive disease, stems from genetic alterations in the CTNS gene, leading to a malfunction of lysosomal ‘cystinosin’ protein. This dysfunction causes intracellular cystine accumulation, resulting
Externí odkaz:
https://doaj.org/article/3b2d1a474476484b9691dda3f6da69c3
Autor:
Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann, Brigitte Chabrol, Christina L. Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt II
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Mucopolysaccharidosis VII (MPS VII) is an ultra-rare, autosomal recessive, debilitating, progressive lysosomal storage disease caused by reduced activity of β-glucuronidase (GUS) enzyme. Vestronidase alfa (recombinant human GUS)
Externí odkaz:
https://doaj.org/article/035cbead2c0241dba2d01dd40974329c
Autor:
Alicja Kotula, Natalia Kucy, Adrianna Czachor, Paula Kula, Mateusz Haber, Olga Grelewicz, Elwira Servaas, Adam Juśkiewicz, Alicja Pilcicka
Publikováno v:
Quality in Sport, Vol 26 (2024)
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, which encodes the enzyme glucocerebrosidase. This enzyme is crucial for breaking down glucocerebrosides, and its deficiency leads to their
Externí odkaz:
https://doaj.org/article/9189a43b81e54dd7abd6114024ce5666
Autor:
Hyundong Yoon, Dohoon Lee, Seulki Song, Bonil Koo, Jihyun Park, Tae Kon Kim, Sun Kim, Sheehyun Kim, Junshik Hong, Ja Min Byun, Dong‐Yeop Shin, Inho Kim, Youngil Koh, Sung‐Soo Yoon
Publikováno v:
Cancer Medicine, Vol 13, Iss 18, Pp n/a-n/a (2024)
Abstract Background Lysosomal dysfunction (LD) impacts cytokine regulation, inflammation, and immune responses, influencing the development and progression of cancer. Inflammation is implicated in the pathogenesis of myeloproliferative neoplasm (MPN)
Externí odkaz:
https://doaj.org/article/ef743f566c3847958966a4db604dfb3b
Publikováno v:
Quality in Sport, Vol 20 (2024)
Abstract: Introduction: Pompe disease is classified as a metabolic myopathy and is a glycogen storage disorder inherited in an autosomal recessive manner due to a mutation in the gene encoding the enzyme α-glucosidase. There are two main forms: i
Externí odkaz:
https://doaj.org/article/8badc358a94b4691afabb3016bdb7f43
Publikováno v:
European Journal of Medical Research, Vol 29, Iss 1, Pp 1-26 (2024)
Abstract Background Metachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a rare lysosomal storage disease caused by deficient arylsulfatase A activity, leading to accumulation of sulfatides in the nervous system. This systematic literature r
Externí odkaz:
https://doaj.org/article/b0f4ee0747944b2ca1bbe6ae9c821918
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background CLN3 disease (also known as CLN3 Batten disease or Juvenile Neuronal Ceroid Lipofuscinosis) is a rare pediatric neurodegenerative disorder caused by biallelic mutations in CLN3. While extensive efforts have been undertaken to unde
Externí odkaz:
https://doaj.org/article/add1cc127d6140539d5ad59353d974ac
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency in arylsulfatase A (ASA) activity arising primarily from ASA gene (ARSA) variants. Late-infantile, juvenile and adult clin
Externí odkaz:
https://doaj.org/article/e280d49d65bd428c906dc84f901eef34