Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Mylvaganam Jeyakumar"'
Autor:
David A Smith, Elena-Raluca Nicoli, Oscar C W Chen, Alexandria Colaco, Stephan Siebel, Stephanie Newman, Dawn Shepherd, Nicole Y Farhat, Andrew E Armitage, Claire Smith, George Seligmann, Mylvaganam Jeyakumar, Alaa Abdul-Sada, Forbes D Porter, Hal Drakesmith, Frances M Platt, Nick Platt
Publikováno v:
Wellcome Open Research, Vol 7 (2023)
Background: Niemann-Pick disease type C1 (NPC1) is a neurodegenerative lysosomal storage disorder characterized by the accumulation of multiple lipids in the late endosome/lysosomal system and reduced acidic store calcium. The lysosomal system regula
Externí odkaz:
https://doaj.org/article/88e020958a694dd6970e032b17add1f9
Publikováno v:
Neurobiology of Disease, Vol 36, Iss 2, Pp 242-251 (2009)
Niemann-Pick disease type C1 (NPC1) is a neurodegenerative lysosomal disorder characterized by sphingolipid and cholesterol storage in the late endocytic system. In common with other neurodegenerative diseases, activation of the innate immune system
Externí odkaz:
https://doaj.org/article/0a2a2d1a54924f08b875d87404356428
Publikováno v:
Neurobiology of Disease, Vol 34, Iss 3, Pp 406-416 (2009)
Neurodegeneration is a prominent feature of the gangliosidoses, a group of lysosomal storage diseases. Here we show altered iron homeostasis in mouse models of both GM1 and GM2 gangliosidoses, which are characterized by progressive depletion of iron
Externí odkaz:
https://doaj.org/article/922d6a1f5e794e9a93fe40970d53821c
Autor:
Ulrika Andersson, David Smith, Mylvaganam Jeyakumar, Terry D Butters, Mario Cortina Borja, Raymond A Dwek, Frances M Platt
Publikováno v:
Neurobiology of Disease, Vol 16, Iss 3, Pp 506-515 (2004)
Sandhoff disease is a severe neurodegenerative glycosphingolipid (GSL) lysosomal storage disorder, currently without treatment options. One therapeutic approach under investigation is substrate reduction therapy (SRT). By partially inhibiting GSL bio
Externí odkaz:
https://doaj.org/article/315c6734e6ba42289485c20efd3ccd93
Autor:
Mylvaganam Jeyakumar, David Smith, Elena Eliott-Smith, Mario Cortina-Borja, Gabriele Reinkensmeier, Terry D. Butters, Thorsten Lemm, Konrad Sandhoff, V.Hugh Perry, Raymond A. Dwek, Frances M. Platt
Publikováno v:
Neurobiology of Disease, Vol 10, Iss 3, Pp 201-210 (2002)
Mouse models of the GM2 gangliosidoses, Tay–Sachs and Sandhoff disease, are null for the hexosaminidase α and β subunits respectively. The Sandhoff (Hexb−/−) mouse has severe neurological disease and mimics the human infantile onset variant.
Externí odkaz:
https://doaj.org/article/ba63622817e841bc9931fcb8d7b798ff
Autor:
Marina Tarunina, Diana Hernandez, Christopher J Johnson, Stanislav Rybtsov, Vidya Ramathas, Mylvaganam Jeyakumar, Thomas Watson, Lilian Hook, Alexander Medvinsky, Chris Mason, Yen Choo
Publikováno v:
PLoS ONE, Vol 9, Iss 9, p e104301 (2014)
We have developed a rapid, bead-based combinatorial screening method to determine optimal combinations of variables that direct stem cell differentiation to produce known or novel cell types having pre-determined characteristics. Here we describe thr
Externí odkaz:
https://doaj.org/article/92d0e70a93204f3198148f2fa0b315bd
Autor:
Oscar C W Chen, Stephan Siebel, Alexandria Colaco, Elena-Raluca Nicoli, Nick Platt, Dawn Shepherd, Stephanie Newman, Andrew E Armitage, Nicole Y Farhat, George Seligmann, Claire Smith, David A Smith, Alaa Abdul-Sada, Mylvaganam Jeyakumar, Hal Drakesmith, Forbes D Porter, Frances M Platt
Publikováno v:
Wellcome Open Research. 7:267
Background: Niemann-Pick disease type C1 (NPC1) is a neurodegenerative lysosomal storage disorder characterized by the accumulation of multiple lipids in the late endosome/lysosomal system and reduced acidic store calcium. The lysosomal system regula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a936dcbc761347c3a5dd98c98b4bc862
https://doi.org/10.12688/wellcomeopenres.17261.1
https://doi.org/10.12688/wellcomeopenres.17261.1
Many neurodegenerative diseases are characterized by the accumulation of undegradable molecules in cells or at extracellular sites in the brain. One such family of diseases is the lysosomal storage disorders, which result from defects in various aspe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daf5f4cbbddfeb98a3f037ba61f81c29
https://doi.org/10.1038/nrn1725
https://doi.org/10.1038/nrn1725
Autor:
Aarnoud C. van der Spoel, Mylvaganam Jeyakumar, Terry D. Butters, Harry M. Charlton, Harry D. Moore, Raymond A. Dwek, Frances M. Platt
During mammalian spermatogenesis, male germ cells undergo a dramatic transformation, which includes a change of shape, nuclear condensation, and development of specialised structures, such as an acrosome, and a flagellum with a mitochondrial sheath.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80dac60aeeb36ca4e007ba6618e6cad8
https://ora.ox.ac.uk/objects/uuid:fcb31551-8bcc-4ec4-9f6a-e97e1789efea
https://ora.ox.ac.uk/objects/uuid:fcb31551-8bcc-4ec4-9f6a-e97e1789efea
Publikováno v:
Neurobiology of Disease, Vol 36, Iss 2, Pp 242-251 (2009)
Niemann-Pick disease type C1 (NPC1) is a neurodegenerative lysosomal disorder characterized by sphingolipid and cholesterol storage in the late endocytic system. In common with other neurodegenerative diseases, activation of the innate immune system
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41b2f6d1c0226f5c123e4eba4bacccbe
https://ora.ox.ac.uk/objects/uuid:c0b42416-7de4-42d4-8fdd-77f8552ee1c6
https://ora.ox.ac.uk/objects/uuid:c0b42416-7de4-42d4-8fdd-77f8552ee1c6