Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Christopher J Carroll"'
Autor:
Jana Buzkova, Joni Nikkanen, Sofia Ahola, Anna H Hakonen, Ksenia Sevastianova, Topi Hovinen, Hannele Yki‐Järvinen, Kirsi H Pietiläinen, Tuula Lönnqvist, Vidya Velagapudi, Christopher J Carroll, Anu Suomalainen
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 12, Pp n/a-n/a (2018)
Abstract Mitochondrial disorders (MDs) are inherited multi‐organ diseases with variable phenotypes. Inclusion body myositis (IBM), a sporadic inflammatory muscle disease, also shows mitochondrial dysfunction. We investigated whether primary and sec
Externí odkaz:
https://doaj.org/article/719edba7c7e845febe3924c436b1d7a2
Autor:
Nahid A Khan, Mari Auranen, Ilse Paetau, Eija Pirinen, Liliya Euro, Saara Forsström, Lotta Pasila, Vidya Velagapudi, Christopher J Carroll, Johan Auwerx, Anu Suomalainen
Publikováno v:
EMBO Molecular Medicine, Vol 6, Iss 6, Pp 721-731 (2014)
Abstract Nutrient availability is the major regulator of life and reproduction, and a complex cellular signaling network has evolved to adapt organisms to fasting. These sensor pathways monitor cellular energy metabolism, especially mitochondrial ATP
Externí odkaz:
https://doaj.org/article/f73f4e66885840a6931b574c10a625cb
Autor:
Yuji Nakamura, Issei S. Shimada, Reza Maroofian, Henry Houlden, Micol Falabella, Masanori Fujimoto, Emi Sato, Hiroshi Takase, Shiho Aoki, Akihiko Miyauchi, Eriko Koshimizu, Satoko Miyatake, Yuko Arioka, Mizuki Honda, Takayoshi Higashi, Fuyuki Miya, Yukimune Okubo, Isamu Ogawa, Annarita Scardamaglia, Mohammad Miryounesi, Sahar Alijanpour, Farzad Ahmadabadi, Peter Herkenrath, Hormos Salimi Dafsari, Clara Velmans, Mohammed Balwi, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Médéric Jeanne, Antoine Civit, Maha S. Zaki, Hossein Darvish, Somayeh Bakhtiari, Michael Kruer, Christopher J Carroll, Ehsan Ghayoor Karimiani, Rozhgar A Khailany, Talib Adil Abdulqadir, Mehmet Ozaslan, Peter Bauer, Giovanni Zifarelli, Tahere Seifi, Mina Zamani, Chadi Al Alam, Robert D S Pitceathly, Kazuhiro Haginoya, Tamihide Matsunaga, Hitoshi Osaka, Naomichi Matsumoto, Norio Ozaki, Yasuyuki Ohkawa, Shinya Oki, Tatsuhiko Tsunoda, Yoshitaka Taketomi, Makoto Murakami, Yoichi Kato, Shinji Saitoh
PNPLA8, one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. However, little is known about its role in brain development. Here, we report 12 indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3166c6dd5bfac2bccc9f569d1910b079
https://doi.org/10.1101/2023.04.26.23288947
https://doi.org/10.1101/2023.04.26.23288947
Autor:
Christopher B Jackson, Anastasiia Marmyleva, Ryan Awadhpersad, Geoffray Monteuuis, Takayuki Mito, Nicola Zamboni, Takashi Tatsuta, Amy E. Vincent, Liya Wang, Thomas Langer, Christopher J Carroll, Anu Suomalainen
Importance of serine as a metabolic regulator is well known in tumors and raising attention also in degenerative diseases. Recent data indicate thatde novoserine biosynthesis is an integral component of metabolic response to mitochondrial disease, bu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0b598e5e18d11f60775757e581c471a0
https://doi.org/10.1101/2023.03.23.533952
https://doi.org/10.1101/2023.03.23.533952
Autor:
Ella F. Whittle, Madison Chilian, Ehsan Ghayoor Karimiani, Helga Progri, Daniela Buhas, Melis Kose, Rebecca D. Ganetzky, Mehran Beiraghi Toosi, Paria Najarzadeh Torbati, Reza Shervin Badv, Ivan Shelihan, Hui Yang, Houda Zghal Elloumi, Sukyeong Lee, Yalda Jamshidi, Alan M. Pittman, Henry Houlden, Erika Ignatius, Shamima Rahman, Reza Maroofian, Wan Hee Yoon, Christopher J. Carroll
Purpose: This study aimed to establish the genetic cause of a novel autosomal recessive neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.Methods: We performed a detailed clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8223f73bbd5b707e1c5d859eb2bb697e
http://hdl.handle.net/10138/356336
http://hdl.handle.net/10138/356336
Autor:
Ken Saida, Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi, Maha S. Zaki, Thomas J. O’Brien, Ehsan Ghayoor Karimiani, Rauan Kaiyrzhanov, Marina Takizawa, Sachiko Ohori, Huey Yin Leong, Gulsen Akay, Hamid Galehdari, Mina Zamani, Ratna Romy, Christopher J. Carroll, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Hadis Malek, Najmeh Ahangari, Hoda Tomoum, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, David Murphy, Natalia Dominik, Hasnaa M. Elbendary, Karima Rafat, Sanem Yilmaz, Seda Kanmaz, Mine Serin, Deepa Krishnakumar, Alice Gardham, Anna Maw, Tekki Sreenivasa Rao, Sarah Alsubhi, Myriam Srour, Daniela Buhas, Tamison Jewett, Rachel E. Goldberg, Hanan Shamseldin, Eirik Frengen, Doriana Misceo, Petter Strømme, José Ricardo Magliocco Ceroni, Chong Ae Kim, Gozde Yesil, Esma Sengenc, Serhat Guler, Mariam Hull, Mered Parnes, Dilek Aktas, Banu Anlar, Yavuz Bayram, Davut Pehlivan, Jennifer E. Posey, Shahryar Alavi, Seyed Ali Madani Manshadi, Hamad Alzaidan, Mohammad Al-Owain, Lama Alabdi, Ferdous Abdulwahab, Futoshi Sekiguchi, Kohei Hamanaka, Atsushi Fujita, Yuri Uchiyama, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Reem M. Elshafie, Kamran Salayev, Ulviyya Guliyeva, Fowzan S. Alkuraya, Joseph G. Gleeson, Kristin G. Monaghan, Katherine G. Langley, Hui Yang, Mahsa Motavaf, Saeid Safari, Mozhgan Alipour, Kazuhiro Ogata, André E.X. Brown, James R. Lupski, Henry Houlden, Naomichi Matsumoto
Purpose: Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p.Pro387Leu, was first reported as a cause of this rare disorder, and dopamine agonists
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40233c210f0a1535cbb0ddd886c14d67
https://hdl.handle.net/11454/79547
https://hdl.handle.net/11454/79547
Autor:
Minna Kraatari‐Tiri, Leila Soikkonen, Matti Myllykoski, Yalda Jamshidi, Ehsan G. Karimiani, Jonna Komulainen‐Ebrahim, Hanna Kallankari, Cyril Mignot, Christel Depienne, Boris Keren, Marie‐Christine Nougues, Zahra Alsahlawi, Antonio Romito, Javier Martini, Mehran B. Toosi, Christopher J. Carroll, Kornelia Tripolszki, Peter Bauer, Johanna Uusimaa, Aida M. Bertoli‐Avella, Peppi Koivunen, Elisa Rahikkala
Publikováno v:
Clinical Genetics
HIDEA syndrome is caused by biallelic pathogenic variants in P4HTM. The phenotype is characterized by muscular and central hypotonia, hypoventilation including obstructive and central sleep apneas, intellectual disability, dysautonomia, epilepsy, eye
Autor:
Taru Hilander, Geoffray Monteuuis, Ryan Awadhpersad, Krystyna L. Broda, Max Pohjanpelto, Elizabeth Pyman, Sachin Kumar Singh, Tuula A. Nyman, Isabelle Crevel, Robert W. Taylor, Ann Saada, Diego Balboa, Brendan J. Battersby, Christopher B. Jackson, Christopher J. Carroll
SummaryMitochondrial ribosomes (mitoribosomes) have undergone substantial structural remodelling throughout evolution. Compared to their prokaryotic counterparts, mitoribosomes show a substantial loss of ribosomal RNA, whilst acquiring unique protein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a47392bcc4b6ff1269534f55d1de21f
https://doi.org/10.1101/2022.06.15.495910
https://doi.org/10.1101/2022.06.15.495910
Autor:
Erika Ignatius, Riina Puosi, Maarit Palomäki, Noora Forsbom, Max Pohjanpelto, Tiina Alitalo, Anna-Kaisa Anttonen, Kristiina Avela, Leena Haataja, Christopher J. Carroll, Tuula Lönnqvist, Pirjo Isohanni
Deleterious variants in the transcription factor early B-cell factor 3 (EBF3) are known to cause a neurodevelopmental disorder (EBF3-NDD). We report eleven individuals with EBF3 variants, including an individual with a duplication/triplication mosaic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2919903b1dd7d6c009bfb38f915347d3
http://hdl.handle.net/10138/344224
http://hdl.handle.net/10138/344224
Publikováno v:
Translational animal science. 6(2)
The breeding of sport horses to compete in the Olympic disciplines of show jumping, eventing, and dressage is fast becoming a global industry with the increased use of reproductive technologies, including artificial insemination and embryo transfer.