Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Mucopolysaccharidosis Type IIIC"'
AAV gene replacement therapy for treating MPS IIIC: Facilitating bystander effects via EV‐mRNA cargo
Autor:
Tierra A. Bobo, Michael Robinson, Christopher Tofade, Marina Sokolski‐Papkov, Peter Nichols, Stephen Vorobiov, Haiyan Fu
Publikováno v:
Journal of Extracellular Vesicles, Vol 13, Iss 7, Pp n/a-n/a (2024)
Abstract MPS IIIC is a lysosomal storage disease caused by mutations in heparan‐α‐glucosaminide N‐acetyltransferase (HGSNAT), for which no treatment is available. Because HGSNAT is a trans‐lysosomal‐membrane protein, gene therapy for MPS I
Externí odkaz:
https://doaj.org/article/f3b1a7a5a82f4abd9c55af1cc1da434d
Autor:
Maurizio Romagnuolo, Chiara Moltrasio, Serena Gasperini, Angelo Valerio Marzano, Stefano Cambiaghi
Publikováno v:
Children, Vol 10, Iss 12, p 1920 (2023)
Congenital dermal melanocytosis (DM) represents a common birthmark mainly found in children of Asian and darker skin phototype descent, clinically characterized by an oval blue-grey macule or macules, commonly located on the lumbosacral area. In rare
Externí odkaz:
https://doaj.org/article/dd5af13e097145ac863003d2497cfd75
Akademický článek
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Akademický článek
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Akademický článek
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Autor:
Yong Liu, Jiayun Ren, Xiao Liu, Xiaohong Meng, Shiying Li, Yanling Long, Hong Guo, Limeng Dai, Sha Li, Xin Yin
Publikováno v:
Ophthalmic Genetics. 41:390-393
Mucopolysaccharidosis type IIIC (MPSIIIC; MIM#252930) is a rare autosomal recessive lysosomal storage disease caused by variations in the heparan-α-glucosaminide N-acetyltransferase (HGSNAT; MIM#61...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9a80caba7faf73ed241dfa6fed0300ca
https://doi.org/10.1080/13816810.2020.1755986
https://doi.org/10.1080/13816810.2020.1755986
Autor:
Bilge Noyan, Damian Labuda, Sandra Leistner-Segal, Roberto Giugliani, Alexey V. Pshezhetsky, Lúcia Lacerda, Jill Wood, Carla Martins, Mahdiyeh Behnam, Larbi Dridi, Nursel Elcioglu, Michael T. Geraghty, Paula Frassinetti Vasconcelos de Medeiros
Publikováno v:
Human Mutation. 40:1084-1100
Mucopolysaccharidosis type IIIC (MPSIIIC) is a severe, rare autosomal recessive disorder caused by variants in the heparan-α-glucosaminide N-acetyltransferase (HGSNAT) gene which result in lysosomal accumulation of heparan sulfate. We analyzed clini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8dd583f758de949e7997c4011c42ea6
https://doi.org/10.1002/humu.23752
https://doi.org/10.1002/humu.23752
Autor:
Carlos R. Morales, Jean-Claude Lacaille, Erika Freemantle, Chanshuai Han, Camila Pará, Graziella Di Cristo, Claire O'Leary, Pierre Thibault, Mahsa Taherzadeh, Brian W. Bigger, Poulomee Bose, Xuefang Pan, Peter S. McPherson, Luigi Bruno, Eric Bonneil, Alexey V. Pshezhetsky
Publikováno v:
JCI Insight
The majority of patients affected with lysosomal storage disorders (LSD) exhibit neurological symptoms. For mucopolysaccharidosis type IIIC (MPSIIIC), the major burdens are progressive and severe neuropsychiatric problems and dementia, primarily thou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12d179b2b6bfdf159b9e25fae0f47dc5
https://pubmed.ncbi.nlm.nih.gov/34156977
https://pubmed.ncbi.nlm.nih.gov/34156977
Autor:
Han, DiCristo, McPherson, Freemantle, Bruno, Bigger, Bonneil, OLeary, Pshezhetsky, Pan, de Britto Para de Aragao, Morales, Bose, Thibault, Lacaille
At least two thirds of patients affected with lysosomal storage disorders (LSD) exhibit neurological symptoms. For mucopolysaccharidosis type IIIC (MPS IIIC, Sanfilippo disease type C) caused by mutations in the HGSNAT gene and lysosomal storage of h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b89618ab83942e9852298cd01cd94419
https://doi.org/10.1101/2020.07.06.186809
https://doi.org/10.1101/2020.07.06.186809
Autor:
Elena R. Schiff, Omar A. Mahroo, Derek Burke, Gavin Arno, Rola Ba-Abbad, Karen Pierpoint, Ehsan Ullah, Savita Nutan, Malena Daich Varela, Katie Harvey, Laryssa A. Huryn, Anthony G. Robson, Robert B. Hufnagel, Andrew R. Webster, Wadih M. Zein, Michel Michaelides, Sari Tuupanen
Publikováno v:
American journal of medical genetics. Part C, Seminars in medical genetics
Pathogenic variants in the gene HGSNAT (heparan-α-glucosaminide N-acetyltransferase) have been reported to underlie two distinct recessive conditions, depending on the specific genotype, mucopolysaccharidosis type IIIC (MPSIIIC)-a severe childhood-o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::173853ede7d3462300a67575382ada3c
https://pubmed.ncbi.nlm.nih.gov/32770643
https://pubmed.ncbi.nlm.nih.gov/32770643