Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Dolly Zhen"'
4′‐Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN
Autor:
Suh Young Jeong, Penelope Hogarth, Andrew Placzek, Allison M Gregory, Rachel Fox, Dolly Zhen, Jeffrey Hamada, Marianne van der Zwaag, Roald Lambrechts, Haihong Jin, Aaron Nilsen, Jared Cobb, Thao Pham, Nora Gray, Martina Ralle, Megan Duffy, Leila Schwanemann, Puneet Rai, Alison Freed, Katrina Wakeman, Randall L Woltjer, Ody CM Sibon, Susan J Hayflick
Publikováno v:
EMBO Molecular Medicine, Vol 11, Iss 12, Pp n/a-n/a (2019)
Abstract Pantothenate kinase‐associated neurodegeneration (PKAN) is an inborn error of CoA metabolism causing dystonia, parkinsonism, and brain iron accumulation. Lack of a good mammalian model has impeded studies of pathogenesis and development of
Externí odkaz:
https://doaj.org/article/39dd68cc193f40f0bd70717b8309a877
Autor:
Allison Gregory, Mitesh Lotia, Suh Young Jeong, Rachel Fox, Dolly Zhen, Lynn Sanford, Jeff Hamada, Amir Jahic, Christian Beetz, Alison Freed, Manju A. Kurian, Thomas Cullup, Marlous C. M. van derWeijden, Vy Nguyen, Naly Setthavongsack, Daphne Garcia, Victoria Krajbich, Thao Pham, Randy Woltjer, Benjamin P. George, Kelly Q. Minks, Alexander R. Paciorkowski, Penelope Hogarth, Joseph Jankovic, Susan J. Hayflick
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Abstract Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is caused by pathogenic sequence variants in C19orf12. Autosomal recessive inheritance has been demonstrated. We present evidence of autosomal dominant MPAN and
Externí odkaz:
https://doaj.org/article/0695c81250cd44dc9f4a652f6db5d326
Autor:
Randall L. Woltjer, Naly Setthavongsack, Penelope Hogarth, Susan J. Hayflick, Alison Freed, David G. Clark, Marlous van der Weijden, Dolly Zhen, Kristen Shirley, Daphne Garcia, Victoria Krajbich, Suh Young Jeong, Vy Nguyen, Allison Gregory, Katrina Wakeman
Publikováno v:
Alzheimer's & Dementia. 16
Autor:
Nihr BioResource, F. Lucy Raymond, Shekeeb S. Mohammad, TD Graves, Susan J. Hayflick, Bert B.A. de Vries, Katy Barwick, Conor Fearon, Dora Steel, Mark Hallett, Asif Doja, Emilie Chan Seng, Camilo Toro, Fiona Stewart, Diane Demailly, Suh Young Jeong, Claudio M. de Gusmao, Frédérique Pavillard, Nutan Sharma, Fabienne Cyprien, Juan C Pallais, Brent L. Fogel, David R. FitzPatrick, Lucia Abela, Russell C. Dale, Bettina Balint, Natalie Trump, Michel Tchan, Sony Malhotra, Swasti Pal, Maya Topf, Manju A. Kurian, Michelle Sahagian, Julia Rankin, Laila Selim, Jeff L. Waugh, Sidney Krystal, Gustavo Polo, Caleb Rogers, Michel Mondain, Kailash P. Bhatia, Ishwar C. Verma, Marisela Dy-Hollins, Kelly A. Mills, Derek Wong, Laura Cif, William A. Gahl, Meredith W Allain, Sanaz Attaripour Isfahani, Agathe Roubertie, Jenny L. Wilson, Allison Gregory, Victoria Gonzalez, Carolyn D. Applegate, Nathalie Dorison, Jennifer A. Bassetti, Catherine Blanchet, Ada Hamosh, Deciphering Developmental Disorders Study, Hane Lee, Julien Baleine, Emma L. Baple, Gaetan Lesca, Anna Znaczko, Thomas Roujeau, Mario Sa, Laurence Lion François, Neil Mahant, Diane Doummar, Sandra Jansen, Marie Hully, Christine Coubes, Eva B. Forman, Victor S.C. Fung, Gaëtan Poulen, Raghda Zaitoun, Serena Galosi, Timothy Lynch, Xavier Vasques, Elise Schaefer, Richard Selway, Adeline Ngoh, Tuula Rinne, Philippe Coubes, Elizabeth L. Fieg, Rachel Fox, Jennifer Friedman, Andrea K. Petersen, Hugo Morales-Briceño, Rebecca Signer, Luis Rohena, Sandra Chantot Bastaraud, Chloé Laurencin, Kishore R. Kumar, Julian A. Martinez-Agosto, Ellyn Farrelly, Kathleen M. Gorman, Esther Meyer, Joel B. Krier, Ariane Soldatos, Lydie Burglen, Jean-Pierre Lin, Pierre-François Perrigault, Dolly Zhen, Harutomo Hasegawa, Mary D. King, Alba Sanchis-Juan, David A. Stevenson, Gilles Cambonie, Wui K. Chong, Christophe Milési, Vincent d'Hardemare, John R. Østergaard
Publikováno v:
Cif, L, Demailly, D, Lin, J P, Barwick, K E, Sa, M, Abela, L, Malhotra, S, Chong, W K, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, M W, Applegate, C D, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, J A, Baple, E L, Bhatia, K P, Blanchet, C, Burglen, L, Cambonie, G, Seng, E C, Bastaraud, S C, Cyprien, F, Coubes, C, d'Hardemare, V, Deciphering Developmental Disorders Study, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, M E, Farrelly, E, Fitzpatrick, D R, Fearon, C, Fieg, E L, Fogel, B L, Forman, E B, Fox, R G, Genomics England Research Consortium, Gahl, W A, Galosi, S, Gonzalez, V, Graves, T D, Gregory, A, Hallett, M, Hasegawa, H, Hayflick, S J, Hamosh, A, Hully, M, Jansen, S, Jeong, S Y, Krier, J B, Krystal, S, Kumar, K R, Laurencin, C, Lee, H, Lesca, G, François, L L, Lynch, T, Mahant, N, Martinez-Agosto, J A, Milesi, C, Mills, K A, Mondain, M, Morales-Briceno, H, NIHR BioResource, Ostergaard, J R & Undiagnosed Diseases Network 2020, ' KMT2B-related disorders : expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation ', Brain : a journal of neurology, vol. 143, no. 11, pp. 3242-3261 . https://doi.org/10.1093/brain/awaa304
Brain
Brain, 143, 3242-3261
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, ⟨10.1093/brain/awaa304⟩
Brain, 143, 11, pp. 3242-3261
Cif, L, Demailly, D, Lin, J-P, Barwick, K E, Sa, M, Abela, L, Malhotra, S, Chong, W K, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, M W, Applegate, C D, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, J A, Baple, E L, Bhatia, K P, Blanchet, C, Burglen, L, Cambonie, G, Seng, E C, Bastaraud, S C, Cyprien, F, Coubes, C, d'Hardemare, V, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, M E, Farrelly, E, Fitzpatrick, D R, Fearon, C, Fieg, E L, Fogel, B L, Forman, E B, Fox, R G, Gahl, W A, Galosi, S, Gonzalez, V, Graves, T D, Gregory, A, Hallett, M, Hasegawa, H & Ostergaard, J R 2020, ' KMT2B-related disorders : expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation ', Brain : a journal of neurology, vol. 143, no. 11, pp. 3242-3261 . https://doi.org/10.1093/brain/awaa304
Brain
Brain, 143, 3242-3261
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, ⟨10.1093/brain/awaa304⟩
Brain, 143, 11, pp. 3242-3261
Cif, L, Demailly, D, Lin, J-P, Barwick, K E, Sa, M, Abela, L, Malhotra, S, Chong, W K, Steel, D, Sanchis-Juan, A, Ngoh, A, Trump, N, Meyer, E, Vasques, X, Rankin, J, Allain, M W, Applegate, C D, Attaripour Isfahani, S, Baleine, J, Balint, B, Bassetti, J A, Baple, E L, Bhatia, K P, Blanchet, C, Burglen, L, Cambonie, G, Seng, E C, Bastaraud, S C, Cyprien, F, Coubes, C, d'Hardemare, V, Doja, A, Dorison, N, Doummar, D, Dy-Hollins, M E, Farrelly, E, Fitzpatrick, D R, Fearon, C, Fieg, E L, Fogel, B L, Forman, E B, Fox, R G, Gahl, W A, Galosi, S, Gonzalez, V, Graves, T D, Gregory, A, Hallett, M, Hasegawa, H & Ostergaard, J R 2020, ' KMT2B-related disorders : expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation ', Brain : a journal of neurology, vol. 143, no. 11, pp. 3242-3261 . https://doi.org/10.1093/brain/awaa304
Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at disease presentation, evolving through a caudocranial pattern i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::454b73289249592eb28ef6cf30506835
https://doi.org/10.1093/brain/awaa304
https://doi.org/10.1093/brain/awaa304
Autor:
Roald A. Lambrechts, Susan J. Hayflick, Megan Duffy, Katrina Wakeman, Jeffrey Hamada, Ody C. M. Sibon, Martina Ralle, Allison Gregory, Haihong Jin, Puneet Rai, Alison Freed, Penelope Hogarth, Marianne van der Zwaag, Thao Pham, Andrew Placzek, Aaron Nilsen, Jared Cobb, Leila K. Schwanemann, Rachel Fox, Randall L. Woltjer, Nora E. Gray, Suh Young Jeong, Dolly Zhen
Publikováno v:
EMBO Molecular Medicine, Vol 11, Iss 12, Pp n/a-n/a (2019)
EMBO Molecular Medicine, 11:e10489. Wiley
EMBO Molecular Medicine
EMBO Molecular Medicine, 11:e10489. Wiley
EMBO Molecular Medicine
Pantothenate kinase‐associated neurodegeneration (PKAN) is an inborn error of CoA metabolism causing dystonia, parkinsonism, and brain iron accumulation. Lack of a good mammalian model has impeded studies of pathogenesis and development of rational
Autor:
Susan J. Hayflick, Dolly Zhen, Benjamin P. George, Victoria Krajbich, Mitesh Lotia, Thomas Cullup, Christian Beetz, Penelope Hogarth, Kelly Q. Minks, Suh Young Jeong, Alison Freed, Vy Nguyen, Randy Woltjer, Joseph Jankovic, Marlous C M van der Weijden, Allison Gregory, Manju A. Kurian, Thao Pham, Alex R. Paciorkowski, Naly Setthavongsack, Daphne Garcia, Jeff Hamada, Rachel Fox, Amir Jahic, Lynn Sanford
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, 7(7):736. Wiley
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, 7(7):736. Wiley
Background Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is caused by pathogenic sequence variants in C19orf12. Autosomal recessive inheritance has been demonstrated. We present evidence of autosomal dominant MPAN and propose a