Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Langping He"'
Autor:
Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 11, Pp 1-14 (2020)
Abstract Leigh syndrome is a progressive neurodegenerative disorder, most commonly observed in paediatric mitochondrial disease, and is often associated with pathogenic variants in complex I structural subunits or assembly factors resulting in isolat
Externí odkaz:
https://doaj.org/article/8060cfefccbf4f1692d0ea57083765cf
Autor:
Hannah Steele, Aurora Gomez‐Duran, Angela Pyle, Sila Hopton, Jane Newman, Renae J Stefanetti, Sarah J Charman, Jehill D Parikh, Langping He, Carlo Viscomi, Djordje G Jakovljevic, Kieren G Hollingsworth, Alan J Robinson, Robert W Taylor, Leonardo Bottolo, Rita Horvath, Patrick F Chinnery
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 3, Pp 1-12 (2020)
Abstract Mitochondrial disorders affect 1/5,000 and have no cure. Inducing mitochondrial biogenesis with bezafibrate improves mitochondrial function in animal models, but there are no comparable human studies. We performed an open‐label observation
Externí odkaz:
https://doaj.org/article/2afb00dd500c48f4976c29a1434a3730
Autor:
Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti, Reza Boostani, Ebrahim Shirzadeh, Thomas Haaf, Daria Diodato, Miriam Schmidts, Robert W. Taylor, Ehsan Ghayoor Karimiani
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-16 (2018)
Abstract Background IARS2 encodes a mitochondrial isoleucyl-tRNA synthetase, a highly conserved nuclear-encoded enzyme required for the charging of tRNAs with their cognate amino acid for translation. Recently, pathogenic IARS2 variants have been ide
Externí odkaz:
https://doaj.org/article/7a44dab6ea36468587af0d9f3785f355
Autor:
Kyle Thompson, Nicole Mai, Monika Oláhová, Filippo Scialó, Luke E Formosa, David A Stroud, Madeleine Garrett, Nichola Z Lax, Fiona M Robertson, Cristina Jou, Andres Nascimento, Carlos Ortez, Cecilia Jimenez‐Mallebrera, Steven A Hardy, Langping He, Garry K Brown, Paula Marttinen, Robert McFarland, Alberto Sanz, Brendan J Battersby, Penelope E Bonnen, Michael T Ryan, Zofia MA Chrzanowska‐Lightowlers, Robert N Lightowlers, Robert W Taylor
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 11, Pp 1-13 (2018)
Abstract OXA1, the mitochondrial member of the YidC/Alb3/Oxa1 membrane protein insertase family, is required for the assembly of oxidative phosphorylation complexes IV and V in yeast. However, depletion of human OXA1 (OXA1L) was previously reported t
Externí odkaz:
https://doaj.org/article/0d713560574b49dfa1120e2d8edbb05c
Autor:
Thomas Agnew, Michelle Goldsworthy, Carlos Aguilar, Anna Morgan, Michelle Simon, Helen Hilton, Chris Esapa, Yixing Wu, Heather Cater, Liz Bentley, Cheryl Scudamore, Joanna Poulton, Karl J. Morten, Kyle Thompson, Langping He, Steve D.M. Brown, Robert W. Taylor, Michael R. Bowl, Roger D. Cox
Publikováno v:
Cell Reports, Vol 25, Iss 12, Pp 3315-3328.e6 (2018)
Summary: Mutations in genes essential for mitochondrial function have pleiotropic effects. The mechanisms underlying these traits yield insights into metabolic homeostasis and potential therapies. Here we report the characterization of a mouse model
Externí odkaz:
https://doaj.org/article/630a0a3d696840bfb3f385b49f594bbc
Autor:
John W Yarham, Tek N Lamichhane, Angela Pyle, Sandy Mattijssen, Enrico Baruffini, Francesco Bruni, Claudia Donnini, Alex Vassilev, Langping He, Emma L Blakely, Helen Griffin, Mauro Santibanez-Koref, Laurence A Bindoff, Ileana Ferrero, Patrick F Chinnery, Robert McFarland, Richard J Maraia, Robert W Taylor
Publikováno v:
PLoS Genetics, Vol 10, Iss 6, p e1004424 (2014)
Identifying the genetic basis for mitochondrial diseases is technically challenging given the size of the mitochondrial proteome and the heterogeneity of disease presentations. Using next-generation exome sequencing, we identified in a patient with s
Externí odkaz:
https://doaj.org/article/1dc0aee73401425cac39fb13446d4bfd
Autor:
William Newman, Thomas Smith, Alessandro Rea, Huw Thomas, Kyle Thompson, Monika Oláhová, Reza Maroofian, Mina Zamani, Langping He, Saeid Sadeghian, Hamid Galehdari, Nava Shaul-Lotan, Tal Gilboa, Kristin Herman, Thomas McCorvie, Wyatt Yue, Henry Houlden, Robert Taylor, O'Keefe RT
Biallelic hypomorphic variants in PRORP have been recently described as causing the autosomal recessive disorder combined oxidative phosphorylation deficiency type 54 (COXPD54). COXPD54 encompasses a phenotypic spectrum of sensorineural hearing loss
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3fb1e8c0b123186bfe3840250b9dd095
https://doi.org/10.21203/rs.3.rs-2844536/v1
https://doi.org/10.21203/rs.3.rs-2844536/v1
Autor:
Enrico Bugiardini, Alan M. Pittman, Conceição Bettencourt, C Woodward, Henry Houlden, Alejandro Horga, Antonella Spinazzola, Ilaria Dalla Rosa, Iain P. Hargreaves, Langping He, Emma L. Blakely, Michael G. Hanna, Sachit Shah, Andreea Manole, Alice L Mitchell, Robert W. Taylor, Robert D S Pitceathly, James M. Polke, Ian J Holt, Mary M. Reilly, Walied Mowafi, Ros Quinlivan
Publikováno v:
Molecular Biology Reports. 48:2093-2104
Mutations in nuclear-encoded protein subunits of the mitochondrial ribosome are an increasingly recognised cause of oxidative phosphorylation system (OXPHOS) disorders. Among them, mutations in the MRPL44 gene, encoding a structural protein of the la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a62207667a5b17ffd1f7fbb71ad1e3c
https://doi.org/10.1007/s11033-021-06188-1
https://doi.org/10.1007/s11033-021-06188-1
Autor:
Francesco Bruni, Kyle Thompson, Grainne S. Gorman, Ewen W. Sommerville, Ilaria Dalla Rosa, Robert W. Taylor, Patrick F. Chinnery, Andrew M. Schaefer, Patrick Yu-Wai-Man, Masha M. Rosenberg, Mariana C. Rocha, Lizbeth Hedstrom, Langping He, Gavin Falkous, Emma L. Blakely, Antonella Spinazzola
Publikováno v:
Clinical Genetics
Autosomal dominant progressive external ophthalmoplegia (adPEO) is a late‐onset, Mendelian mitochondrial disorder characterised by paresis of the extraocular muscles, ptosis, and skeletal‐muscle restricted multiple mitochondrial DNA (mtDNA) delet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7e087aa81b30b8224181eba9d45ffdd
https://doi.org/10.1111/cge.13652
https://doi.org/10.1111/cge.13652
Autor:
Kenneth McWilliam, Alison Cozens, Emma L. Blakely, Gavin Falkous, Albert Z Lim, Robert McFarland, Robert W. Taylor, Karen Baty, Sila Hopton, Langping He
Publikováno v:
Mitochondrion
Mitochondrial DNA variants in the MT-TM (mt-tRNAMet) gene are rare, typically associated with myopathic phenotypes. We identified a novel MT-TM variant resulting in prolonged seizures with childhood-onset myopathy, retinopathy, short stature and elev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::757f63fe3f8ab334fb945fc58c789630
http://europepmc.org/articles/PMC6617384
http://europepmc.org/articles/PMC6617384