Zobrazeno 1 - 10
of 373
pro vyhledávání: '"Shunji Tomatsu"'
Autor:
Estera Rintz, Betul Celik, Nidhi Fnu, Angélica María Herreño-Pachón, Shaukat Khan, Eliana Benincore-Flórez, Shunji Tomatsu
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 2, Pp 102211- (2024)
Mucopolysaccharidosis type IVA (MPS IVA) is caused by a deficiency of the galactosamine (N-acetyl)-6-sulfatase (GALNS) enzyme responsible for the degradation of specific glycosaminoglycans (GAGs). The progressive accumulation of GAGs leads to various
Externí odkaz:
https://doaj.org/article/2f3e9aa130624ddab430b233b94c89ae
Autor:
Luisa N. Pimentel-Vera, Alexander Rodríguez-López, Angela J. Espejo-Mojica, Aura María Ramírez, Carolina Cardona, Luis H. Reyes, Shunji Tomatsu, Thapakorn Jaroentomeechai, Matthew P. DeLisa, Oscar F. Sánchez, Carlos J. Alméciga-Díaz
Publikováno v:
Heliyon, Vol 10, Iss 12, Pp e32555- (2024)
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by mutations in the gene encoding the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS), resulting in the accumulation of keratan sulfate (KS) and chondroitin-
Externí odkaz:
https://doaj.org/article/c416a701f4074f4abb9006fd40dbe25c
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 15, p 8339 (2024)
Bone development is characterized by complex regulation mechanisms, including signal transduction and transcription factor-related pathways, glycobiological processes, cellular interactions, transportation mechanisms, and, importantly, chemical forma
Externí odkaz:
https://doaj.org/article/e75c645339c046a593a2095719717aa2
Autor:
Andrés Felipe Leal, Betul Celik, Nidhi Fnu, Shaukat Khan, Shunji Tomatsu, Carlos Javier Alméciga-Díaz
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 31, Iss , Pp 101153- (2023)
Mucopolysaccharidosis (MPS) IVA is a lysosomal storage disorder caused by mutations in the GALNS gene that leads to the lysosomal accumulation of keratan sulfate (KS) and chondroitin 6-sulfate, causing skeletal dysplasia and cardiopulmonary complicat
Externí odkaz:
https://doaj.org/article/9316e153218645a08fbd403092ea96b6
Autor:
Xuefang Pan, Antoine Caillon, Shuxian Fan, Shaukat Khan, Shunji Tomatsu, Alexey V. Pshezhetsky
Publikováno v:
Cells, Vol 13, Iss 10, p 877 (2024)
Mucopolysaccharidosis III type C (MPS IIIC) is an untreatable neuropathic lysosomal storage disease caused by a genetic deficiency of the lysosomal N-acetyltransferase, HGSNAT, catalyzing a transmembrane acetylation of heparan sulfate. HGSNAT is a tr
Externí odkaz:
https://doaj.org/article/fd13f0cf23ba4e43b07b59d0a19541e4
Autor:
J. Victor. Álvarez, Susana B. Bravo, María Pilar Chantada-Vázquez, Carmen Pena, Cristóbal Colón, Shunji Tomatsu, Francisco J. Otero-Espinar, María L. Couce
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 6, p 3232 (2024)
Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disease (LSD) caused by deficiency of a hydrolase enzyme, N-acetylgalactosamine-6-sulfate sulfatase, and characterized clinically by mainly m
Externí odkaz:
https://doaj.org/article/6b7d88da24834bc29b349c233640459a
Autor:
Andrés Felipe Leal, Angelica María Herreno-Pachón, Eliana Benincore-Flórez, Amali Karunathilaka, Shunji Tomatsu
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2456 (2024)
Since its discovery in 2012, the clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated protein 9 (Cas9) system has supposed a promising panorama for developing novel and highly precise genome editing-based gene ther
Externí odkaz:
https://doaj.org/article/1408960c959649a79fda0225ca39635a
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 2, p 1113 (2024)
Mucopolysaccharidoses (MPSs) are a group of inborn errors of the metabolism caused by a deficiency in the lysosomal enzymes required to break down molecules called glycosaminoglycans (GAGs). These GAGs accumulate over time in various tissues and disr
Externí odkaz:
https://doaj.org/article/7ceef241404e448d9c7a1b9eed227b01
Autor:
Edina Poletto, Pasqualina Colella, Luisa N. Pimentel Vera, Shaukat Khan, Shunji Tomatsu, Guilherme Baldo, Natalia Gomez-Ospina
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 392-409 (2022)
Autologous hematopoietic stem cell transplantation using genome-edited cells can become a definitive therapy for hematological and non-hematological disorders with neurological involvement. Proof-of-concept studies using human genome-edited hematopoi
Externí odkaz:
https://doaj.org/article/138467156b384541b8cb54764f091280
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 22, p 16148 (2023)
Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) encoding gene. GALNS leads to the lysosomal degradation of the glycosaminoglyccreasans keratan sulfate and chondroitin
Externí odkaz:
https://doaj.org/article/926aeaab8aab4360b156e005306e2b7a