Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Rachel Heon-Roberts"'
Autor:
Helle Bogetofte, Brent J. Ryan, Pia Jensen, Sissel I. Schmidt, Dana L.E. Vergoossen, Mike B. Barnkob, Lisa N. Kiani, Uroosa Chughtai, Rachel Heon-Roberts, Maria Claudia Caiazza, William McGuinness, Ricardo Márquez-Gómez, Jane Vowles, Fiona S. Bunn, Janine Brandes, Peter Kilfeather, Jack P. Connor, Hugo J.R. Fernandes, Tara M. Caffrey, Morten Meyer, Sally A. Cowley, Martin R. Larsen, Richard Wade-Martins
Publikováno v:
Cell Reports, Vol 42, Iss 3, Pp 112180- (2023)
Summary: Variants at the GBA locus, encoding glucocerebrosidase, are the strongest common genetic risk factor for Parkinson’s disease (PD). To understand GBA-related disease mechanisms, we use a multi-part-enrichment proteomics and post-translation
Externí odkaz:
https://doaj.org/article/82feb45f7a544f64addd016b4fe4a636
Autor:
Xuefang Pan, Mahsa Taherzadeh, Poulomee Bose, Rachel Heon-Roberts, Annie L.A. Nguyen, TianMeng Xu, Camila Pará, Yojiro Yamanaka, David A. Priestman, Frances M. Platt, Shaukat Khan, Nidhi Fnu, Shunji Tomatsu, Carlos R. Morales, Alexey V. Pshezhetsky
The majority of mucopolysaccharidosis IIIC (MPS IIIC) patients have missense variants causing misfolding of heparan sulfate acetyl-CoA:α-glucosaminide N-acetyltransferase (HGSNAT), which are potentially treatable with pharmacological chaperones. To
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d581a89a1cd7814afc25e275b4725b1
https://doi.org/10.1084/jem.20211860
https://doi.org/10.1084/jem.20211860
Autor:
Mahsa Taherzadeh, Frances M. Platt, Alexey V. Pshezhetsky, Annie L. A. Nguyen, Shunji Tomatsu, Yojiro Yamanaka, Carlos R. Morales, David A. Priestman, Xuefang Pan, Shaukat Khan, Rachel Heon-Roberts, Camila Pará, TianMeng Xu, Poulomee Bose, Nidhi Fnu
ObjectiveOver 55% of mucopolysaccharidosis IIIC (MPS IIIC) patients have at least one allelic missense variant responsible for misfolding of heparan sulfate acetyl-CoA:α-glucosaminide N- acetyltransferase (HGSNAT). These variants are potentially tre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::93e0884da37aefd4e3bac5aa5e3908e8
https://doi.org/10.1101/2021.08.26.457793
https://doi.org/10.1101/2021.08.26.457793
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 2, p 344 (2020)
Journal of Clinical Medicine
Journal of Clinical Medicine
The mucopolysaccharidoses (MPS) are a group of diseases caused by the lysosomal accumulation of glycosaminoglycans, due to genetic deficiencies of enzymes involved in their degradation. MPS III or Sanfilippo disease, in particular, is characterized b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70a129f8ce544078464f7735aa9184f9
https://www.mdpi.com/2077-0383/9/2/344
https://www.mdpi.com/2077-0383/9/2/344
Autor:
Alexey V. Pshezhetsky, Rachel Heon-Roberts, Christopher W. Cairo, Chunxia Zou, Ruixiang Blake Zheng, Tianlin Guo
Publikováno v:
Journal of medicinal chemistry. 61(24)
Inhibitors of human neuraminidase enzymes (NEU) are recognized as important tools for the study of the biological functions of NEU and will be potent tools for elucidating the role of these enzymes in regulating the repertoire of cellular glycans. He
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12eed3451997dc8519b8955af721b975
https://pubmed.ncbi.nlm.nih.gov/30457869
https://pubmed.ncbi.nlm.nih.gov/30457869
Autor:
Alexey V. Pshezhetsky, Robert Boyd, Camila De Britto Pará De Aragão, Sean Ekins, Shao-Gang Li, Xuefang Pan, Rachel Heon-Roberts, Joel S. Freundlich, Jill Wood, Harry Y. Wu, Mahsa Taherzadeh
Publikováno v:
Molecular Genetics and Metabolism. 123:S121-S122
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::484a8c987872b0e5409d1132ae7b2f00
https://doi.org/10.1016/j.ymgme.2017.12.329
https://doi.org/10.1016/j.ymgme.2017.12.329