المؤلفون: Vasilescu, Catalina, Colpan, Mert, Ojala, Tiina H., Manninen, Tuula, Mutka, Aino, Ylänen, Kaisa, Rahkonen, Otto, Poutanen, Tuija, Martelius, Laura, Kumari, Reena, Hinterding, Helena, Brilhante, Virginia, Ojanen, Simo, Lappalainen, Pekka, Koskenvuo, Juha, Carroll, Christopher J., Fowler, Velia M., Gregorio, Carol C., Suomalainen, Anu

المساهمون: Tampere University, Neurological and Sensory diseases, Oncology, Surgical sciences, LAST, Paediatrics, Children's and Women's health, Diagnostic Medicine, Psychiatry

مصطلحات موضوعية: 3123 Gynaecology and paediatrics, 3121 Internal medicine

وصف الملف: fulltext

Relation: https://trepo.tuni.fi/handle/10024/158942

الاتاحة: https://trepo.tuni.fi/handle/10024/158942
https://doi.org/10.1038/s42003-023-05670-9

المؤلفون: Hilander, Taru, Awadhpersad, Ryan, Monteuuis, Geoffray, Broda, Krystyna L., Pohjanpelto, Max, Pyman, Elizabeth, Singh, Sachin Kumar, Nyman, Tuula A., Crevel, Isabelle, Taylor, Robert W., Saada, Ann, Balboa, Diego, Battersby, Brendan J., Jackson, Christopher B., Carroll, Christopher J.

المساهمون: Department of Biochemistry and Developmental Biology, STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, Faculty Common Matters (Faculty of Medicine), Centre of Excellence in Stem Cell Metabolism, Timo Pyry Juhani Otonkoski / Principal Investigator, Institute of Biotechnology, Doctoral Programme in Biomedicine, Doctoral Programme in Integrative Life Science, Clinicum

مصطلحات موضوعية: biochemistry, biological sciences, cell biology, molecular biology, cell and molecular biology

وصف الملف: application/pdf

Relation: The authors wish to thank Tarja Grundstr\u00F6m for technical help. Following funding resources are acknowledged: K.L.B and C.J.C. are supported by the Lily Foundation . C.B.J. is supported by the Finnish Research Council / Academy of Finland ( 330098 ), the Jane & Aatos Erkko Foundation , and the Magnus Ehrnrooth Foundation . R.A. is supported by the ILS Doctoral program. T.H. is supported by the S\u00E4\u00E4ti\u00F6iden post doc-pooli , Paulon S\u00E4\u00E4ti\u00F6 , Maud Kuistila Memorial Foundation , and Emil Aaltosen S\u00E4\u00E4ti\u00F6 . D.B. was supported through the EMBO Long-Term Fellowship ALT295-2019. B.J.B. is supported by the Sigrid Jus\u00E9lius Senior Investigator Award, National Ataxia Foundation , Lindsey Flynt , Hereditary Neuropathy Foundation , Research Council of Finland , and the Magnus Ehrnrooth Foundation . R.W.T. is supported by the Wellcome Trust Centre for Mitochondrial Research ( 203105/Z/16/Z ), the Mitochondrial Disease Patient Cohort (UK) ( G0800674 ), the Medical Research Council International Centre for Genomic Medicine in Neuromuscular Disease ( MR/S005021/1 ), the Medical Research Council ( MR/W019027/1 ), the Lily Foundation , Mito Foundation , the Pathological Society , the UK NIHR Biomedical Research Centre for Ageing and Age-related disease award to the Newcastle upon Tyne Foundation Hospitals NHS Trust, and the UK NHS Highly Specialized Service for Rare Mitochondrial Disorders of Adults and Children. The authors wish to thank Tarja Grundstr\u00F6m for technical help. Following funding resources are acknowledged: K.L.B and C.J.C. are supported by the Lily Foundation. C.B.J. is supported by the Research Council of Finland (330098), the Jane & Aatos Erkko Foundation (230004), and the Magnus Ehrnrooth Foundation. R.A. is supported by the ILS Doctoral program. T.H. is supported by the S\u00E4\u00E4ti\u00F6iden post doc-pooli, Paulon S\u00E4\u00E4ti\u00F6, Maud Kuistila Memorial Foundation, and Emil Aaltosen S\u00E4\u00E4ti\u00F6. D.B. was supported through the EMBO Long-Term Fellowship ALT295-2019. B.J.B. is supported by the Sigrid Jus\u00E9lius Senior Investigator Award, National Ataxia Foundation, Lindsey Flynt, Hereditary Neuropathy Foundation, Research Council of Finland, and the Magnus Ehrnrooth Foundation. R.W.T. is supported by the Wellcome Trust Centre for Mitochondrial Research (203105/Z/16/Z), the Mitochondrial Disease Patient Cohort (UK) (G0800674), the Medical Research Council International Centre for Genomic Medicine in Neuromuscular Disease (MR/S005021/1), the Medical Research Council (MR/W019027/1), the Lily Foundation, Mito Foundation, the Pathological Society, the UK NIHR Biomedical Research Centre for Ageing and Age-related disease award to the Newcastle upon Tyne Foundation Hospitals NHS Trust, and the UK NHS Highly Specialized Service for Rare Mitochondrial Disorders of Adults and Children. Mass spectrometry-based proteomic analyses were performed by the Proteomics Core Facility, Department of Immunology, University of Oslo/Oslo University Hospital, which is supported by the Core Facilities program of the South-Eastern Norway Regional Health Authority. This core facility is also a member of the National network of Advanced Proteomics Infrastructure (NAPI), which is funded by the Research Council of Norway INFRASTRUKTUR program (project number: 295910). We acknowledge the use of the Image Resource Facility, St George's, University of London. Conceptualization, C.B.J. C.J.C; methodology, investigation, and formal analysis, T.H. G.M. R.A. M.P. K.L.B. E.P. S.K.S. T.A.N. I.C. D.B. C.B.J. C.J.C.; resources, A.S. B.J.B. R.W.T. C.B.J. C.J.C.; supervision, B.J.B. C.B.J. C.J.C.; funding acquisition, R.W.T. B.J.B. C.B.J. C.J.C.; writing \u2013 original draft, C.B.J. C.J.C.; writing \u2013 review and editing, T.H. G.M. R.A. R.W.T. B.J.B. C.B.J. C.J.C. The authors declare no competing interests. Mass spectrometry-based proteomic analyses were performed by the Proteomics Core Facility, Department of Immunology, University of Oslo/Oslo University Hospital, which is supported by the Core Facilities program of the South-Eastern Norway Regional Health Authority . This core facility is also a member of the National network of Advanced Proteomics Infrastructure (NAPI), which is funded by the Research Council of Norway INFRASTRUKTUR program (project number: 295910). We acknowledge the use of the Image Resource Facility, St George\u2019s, University of London.; Hilander , T , Awadhpersad , R , Monteuuis , G , Broda , K L , Pohjanpelto , M , Pyman , E , Singh , S K , Nyman , T A , Crevel , I , Taylor , R W , Saada , A , Balboa , D , Battersby , B J , Jackson , C B & Carroll , C J 2024 , ' Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation ' , iScience , vol. 27 , no. 7 , 110185 . https://doi.org/10.1016/j.isci.2024.110185; ORCID: /0000-0003-1035-6417/work/163592014; http://hdl.handle.net/10138/578926; 2665117c-7d82-4749-a959-9f521b4d46bc; 85196504791; 001259677400001

الاتاحة: http://hdl.handle.net/10138/578926

المؤلفون: Matthews, Emma, Whittle, Ella F., Khan, Faraan, McEntagart, Meriel, Carroll, Christopher J.

المساهمون: RCUK | Medical Research Council

المصدر: Journal of Human Genetics ; volume 69, issue 6, page 283-285 ; ISSN 1434-5161 1435-232X

الاتاحة: http://dx.doi.org/10.1038/s10038-024-01226-9
https://www.nature.com/articles/s10038-024-01226-9.pdf
https://www.nature.com/articles/s10038-024-01226-9

المؤلفون: Nakamura, Yuji, Shimada, Issei S, Maroofian, Reza, Falabella, Micol, Zaki, Maha S, Fujimoto, Masanori, Sato, Emi, Takase, Hiroshi, Aoki, Shiho, Miyauchi, Akihiko, Koshimizu, Eriko, Miyatake, Satoko, Arioka, Yuko, Honda, Mizuki, Higashi, Takayoshi, Miya, Fuyuki, Okubo, Yukimune, Ogawa, Isamu, Scardamaglia, Annarita, Miryounesi, Mohammad, Alijanpour, Sahar, Ahmadabadi, Farzad, Herkenrath, Peter, Dafsari, Hormos Salimi, Velmans, Clara, Al Balwi, Mohammed, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Jeanne, Médéric, Civit, Antoine, Abdel-Hamid, Mohamed S, Naderi, Hamed, Darvish, Hossein, Bakhtiari, Somayeh, Kruer, Michael C, Carroll, Christopher J, Ghayoor Karimiani, Ehsan, Khailany, Rozhgar A, Abdulqadir, Talib Adil, Ozaslan, Mehmet, Bauer, Peter, Zifarelli, Giovanni, Seifi, Tahere, Zamani, Mina, Al Alam, Chadi, Alvi, Javeria Raza, Sultan, Tipu, Efthymiou, Stephanie, Pope, Simon A S, Haginoya, Kazuhiro

المساهمون: Japan Society for the Promotion of Science, Kawano Masanori Memorial Public Interest Incorporated Foundation, Ono Medical Research Foundation, Cologne Clinician Scientist Program/Faculty of Medicine/University of Cologne, German Research Foundation, Medical Research Council, CURE

المصدر: Brain ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awae185
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awae185/58700169/awae185.pdf

المؤلفون: Chowdhury, Shabab, Latham, Katie A., Tran, Andy C., Carroll, Christopher J., Stanton, Richard J., Weekes, Michael P., Neil, Stuart J. D., Swanson, Chad M., Strang, Blair L.

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/164636/1/jgv001929.pdf; Chowdhury, Shabab, Latham, Katie A., Tran, Andy C., Carroll, Christopher J., Stanton, Richard J. https://orca.cardiff.ac.uk/view/cardiffauthors/A0697454.html orcid:0000-0002-6799-1182 orcid:0000-0002-6799-1182, Weekes, Michael P., Neil, Stuart J. D., Swanson, Chad M. and Strang, Blair L. 2023. Inhibition of human cytomegalovirus replication by interferon alpha can involve multiple anti-viral factors. Journal of General Virology 104 (12) , 001929. 10.1099/jgv.0.001929 https://doi.org/10.1099/jgv.0.001929 file https://orca.cardiff.ac.uk/id/eprint/164636/1/jgv001929.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/164636/
https://doi.org/10.1099/jgv.0.001929
https://orca.cardiff.ac.uk/id/eprint/164636/1/jgv001929.pdf

المؤلفون: Saida, Ken, Maroofian, Reza, Sengoku, Toru, Mitani, Tadahiro, Pagnamenta, Alistair T., Marafi, Dana, Zaki, Maha S., O’Brien, Thomas J., Karimiani, Ehsan Ghayoor, Kaiyrzhanov, Rauan, Takizawa, Marina, Ohori, Sachiko, Leong, Huey Yin, Akay, Gulsen, Galehdari, Hamid, Zamani, Mina, Romy, Ratna, Carroll, Christopher J., Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Malek, Hadis, Ahangari, Najmeh, Tomoum, Hoda, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Murphy, David, Dominik, Natalia, Elbendary, Hasnaa M., Rafat, Karima, Yilmaz, Sanem, Kanmaz, Seda, Serin, Mine, Krishnakumar, Deepa, Gardham, Alice, Maw, Anna, Rao, Tekki Sreenivasa, Alsubhi, Sarah, Srour, Myriam, Buhas, Daniela, Jewett, Tamison, Goldberg, Rachel E., Shamseldin, Hanan, Frengen, Eirik, Misceo, Doriana, Strømme, Petter, Magliocco Ceroni, José Ricardo, Kim, Chong Ae, Yesil, Gozde, Sengenc, Esma

المساهمون: Muscular Dystrophy Association, Ataxia UK, American Brain Foundation, European Research Council, American Academy of Neurology, King Salman Center for Disability Research, Brain Research UK, National Institute of Neurological Disorders and Stroke, Baylor-Hopkins Center for Mendelian Genomics, International Rett Syndrome Foundation, Medical Research Council, National Institutes of Health, Muscular Dystrophy UK, University College London Hospitals Biomedical Research Centre, National Heart, Lung, and Blood Institute, Multiple System Atrophy Trust, National Human Genome Research Institute, Rosetrees Trust, Takeda Science Foundation, Great Ormond Street Hospital Charity, Japan Agency for Medical Research and Development, Japan Society for the Promotion of Science, Horizon 2020 Framework Programme, Horizon 2020

المصدر: Genetics in Medicine ; volume 25, issue 1, page 90-102 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.09.010
https://api.elsevier.com/content/article/PII:S1098360022009480?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022009480?httpAccept=text/plain

المؤلفون: Whittle, Ella F., Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D., Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M., Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, Carroll, Christopher J.

المصدر: Genetics in Medicine ; volume 25, issue 2, page 100332 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.11.001
https://api.elsevier.com/content/article/PII:S1098360022010000?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022010000?httpAccept=text/plain

المؤلفون: Carroll, Christopher J.

Thesis Advisors: MacKinnon, Douglas, Gallup, Shelley, Naval Postgraduate School (U.S.)

الاتاحة: http://hdl.handle.net/10945/4078

المؤلفون: Kaiyrzhanov, Rauan, Zaki, Maha S., Lau, Tracy, Sen, Sambuddha, Azizimalamiri, Reza, Zamani, Mina, Sayin, Gözde Yeşil, Hilander, Taru, Efthymiou, Stephanie, Chelban, Viorica, Brown, Ruth, Thompson, Kyle, Scarano, Maria Irene, Ganesh, Jaya, Koneev, Kairgali, Gülaçar, Ismail Musab, Person, Richard, Sadykova, Dinara, Maidyrov, Yerdan, Seifi, Tahereh, Zadagali, Aizhan, Bernard, Geneviève, Allis, Katrina, Elloumi, Houda Zghal, Lindy, Amanda, Taghiabadi, Ehsan, Verma, Sumit, Logan, Rachel, Kirmse, Brian, Bai, Renkui, Khalaf, Shaimaa M., Abdel‐Hamid, Mohamed S., Sedaghat, Alireza, Shariati, Gholamreza, Issa, Mahmoud, Zeighami, Jawaher, Elbendary, Hasnaa M., Brown, Garry, Taylor, Robert W., Galehdari, Hamid, Gleeson, Joseph J., Carroll, Christopher J., Cowan, James A., Moreno‐De‐Luca, Andres, Houlden, Henry, Maroofian, Reza

المساهمون: Medical Research Council, The Wellcome Trust DBT India Alliance

المصدر: Annals of Clinical and Translational Neurology ; volume 9, issue 12, page 2025-2035 ; ISSN 2328-9503 2328-9503

الاتاحة: https://doi.org/10.1002/acn3.51679
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51679
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/acn3.51679

المؤلفون: Ignatius, Erika, Puosi, Riina, Palomäki, Maarit, Forsbom, Noora, Pohjanpelto, Max, Alitalo, Tiina, Anttonen, Anna-Kaisa, Avela, Kristiina, Haataja, Leena, Carroll, Christopher J., Lönnqvist, Tuula, Isohanni, Pirjo

المساهمون: HUS Children and Adolescents, Research Programs Unit, Lastenneurologian yksikkö, STEMM - Stem Cells and Metabolism Research Program, HUS Medical Imaging Center, Department of Diagnostics and Therapeutics, HUS Diagnostic Center, Silmäklinikka, HUS Head and Neck Center, HUSLAB, Medicum, Tutkimusryhmä Anna-Elina Lehesjoki, Department of Medical and Clinical Genetics, Children's Hospital, Clinicum, Anu Wartiovaara / Principal Investigator

مصطلحات موضوعية: EBF3, EBF3-NDD, HADDS, Ataxia, Phenotype, 10q26, VARIANTS, DATABASE, Neurosciences, Neurology and psychiatry, Gynaecology and paediatrics

وصف الملف: application/pdf

Relation: Ignatius , E , Puosi , R , Palomäki , M , Forsbom , N , Pohjanpelto , M , Alitalo , T , Anttonen , A-K , Avela , K , Haataja , L , Carroll , C J , Lönnqvist , T & Isohanni , P 2022 , ' Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype ' , European Journal of Paediatric Neurology , vol. 37 , pp. 1-7 . https://doi.org/10.1016/j.ejpn.2021.12.012; ORCID: /0000-0002-8057-6194/work/113990410; http://hdl.handle.net/10138/344224; 7668e317-ce43-4970-8145-7272f71371fe; 000788073000001

الاتاحة: http://hdl.handle.net/10138/344224

المؤلفون: Meng, Linyan, Isohanni, Pirjo, Shao, Yunru, Graham, Brett H., Hickey, Scott E., Brooks, Stephanie, Suomalainen, Anu, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Hackenberg, Annette, High, Frances A., Armstrong-Javors, Amy, Mencacci, Niccolo E., Gonzalez-Latapi, Paulina, Kamel, Walaa A., Al-Hashel, Jasem Y., Bustos, Bernabe, Hernandez, Alejandro, Krainc, Dimitri, Lubbe, Steven J., Van Esch, Hilde, De Luca, Chiara, Ballon, Katleen, Ravelli, Claudia, Burglen, Lydie, Qebibo, Leila, Calame, Daniel G., Mitani, Tadahiro, Marafi, Dana, Pehlivan, Davut, Saadi, Nebal W., Sahin, Yavuz, Maroofian, Reza, Efthymiou, Stephanie, Houlden, Henry, Maqbool, Shazia, Rahman, Fatima, Gu, Shen, Posey, Jennifer E., Lupski, James R., Hunter, Jill, Wangler, Michael F., Carroll, Christopher J., Yang, Yaping

المساهمون: HUS Children and Adolescents, Research Programs Unit, Anu Wartiovaara / Principal Investigator, Children's Hospital, Clinicum, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Lastenneurologian yksikkö, Helsinki University Hospital Area, HUS Helsinki and Uusimaa Hospital District, FinMIT Centre of Excellence (Wartiovaara Anu)

مصطلحات موضوعية: Neurosciences, Neurology and psychiatry

وصف الملف: application/pdf

Relation: N.E.M. is supported by a Parkinson's Foundation grant. P.I. is supported by the Foundation for Pediatric Research. D.K. is supported by the Simpson Querrey Center for Neurogenetics. Biospecimens used in the analyses presented in this article were obtained from the Northwestern University Movement Disorders Center (MDC) Biorepository. As such, the investigators within MDC Biorepository contributed to the design and implementation of the MDC Biorepository and/or provided data and collected biospecimens but did not participate in the analysis or writing of this report. MDC Biorepository investigators include Tanya Simuni, MD; Dimitri Krainc, MD, PhD; Opal Puneet, MD, PhD; Cindy Zadikoff, MD; Onur Melen, MD; Danny Bega, MD; Roneil G. Malkani, MD; Steven Lubbe, PhD; Niccolo E. Mencacci, MD, PhD; Christina Zelano, PhD; Joanna Blackburn, MD; Firas Wehbe, MD, PhD; Lisa Kinsley, MS, CGC; and Tina Ward, MS. A gift from the Malkin family generously supported the work of the MDC Biorepository. J.R.L. is supported by a grant from the National Human Genome Research Institute (NHGRI) and National Heart, Lung, and Blood Institute (NHLBI) to the Baylor-Hopkins Center for Mendelian Genomics (UM1 HG006542); a National Institute of Neurological Disorders and Stroke grant (R35NS105078); and an Muscular Dystrophy Association grant (512848). T.M. is supported by the Uehara Memorial Foundation. D.M. is supported by a Medical Genetics Research Fellowship Program through the National Institute of General Medical Sciences (NIGMS) at US NIH (T32 GM007526-42). D.P. is supported by a Clinical Research Training Scholarship in Neuromuscular Disease partnered by the American Brain Foundation and Muscle Study Group, and the International Rett Syndrome Foundation (grant #3701-1). J.E.P. was supported by NHGRI K08 HG008986.; Meng , L , Isohanni , P , Shao , Y , Graham , B H , Hickey , S E , Brooks , S , Suomalainen , A , Joset , P , Steindl , K , Rauch , A , Hackenberg , A , High , F A , Armstrong-Javors , A , Mencacci , N E , Gonzalez-Latapi , P , Kamel , W A , Al-Hashel , J Y , Bustos , B , Hernandez , A , Krainc , D , Lubbe , S J , Van Esch , H , De Luca , C , Ballon , K , Ravelli , C , Burglen , L , Qebibo , L , Calame , D G , Mitani , T , Marafi , D , Pehlivan , D , Saadi , N W , Sahin , Y , Maroofian , R , Efthymiou , S , Houlden , H , Maqbool , S , Rahman , F , Gu , S , Posey , J E , Lupski , J R , Hunter , J , Wangler , M F , Carroll , C J & Yang , Y 2021 , ' MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia ' , Annals of Neurology , vol. 89 , no. 4 , pp. 828-833 . https://doi.org/10.1002/ana.26019; http://hdl.handle.net/10138/340557; e43a87eb-1dd1-4a12-b9f7-3133b8f49cdc; 000615954700001

الاتاحة: http://hdl.handle.net/10138/340557

المؤلفون: Whittle, Ella F, Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D, Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M, Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, Carroll, Christopher J

المصدر: Genetics in Medicine (2022) (In press).

مصطلحات موضوعية: Mitochondria, Neurodevelopmental disease, OGDH, Oxoglutarate dehydrogenase, α-ketoglutarate dehydrogenase deficiency

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10162085/1/1-s2.0-S1098360022010000-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10162085/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10162085/1/1-s2.0-S1098360022010000-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10162085/

المؤلفون: Kraatari‐tiri, Minna, Soikkonen, Leila, Myllykoski, Matti, Jamshidi, Yalda, Karimiani, Ehsan, G, Komulainen-Ebrahim, Jonna, Kallankari, Hanna, Mignot, Cyril, Depienne, Christel, Keren, Boris, Nougues, Marie‐christine, Alsahlawi, Zahra, Romito, Antonio, Martini, Javier, Toosi, Mehran, B, Carroll, Christopher, J, Tripolszki, Kornelia, Bauer, Peter, Uusimaa, Johanna, Bertoli‐avella, Aida, M, Koivunen, Peppi, Rahikkala, Elisa

المساهمون: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: ISSN: 0009-9163.

مصطلحات موضوعية: Genes, frequency GDD, global developmental delay ID, intellectual disability, frequency, GDD, global developmental delay, ID, recessive, HIDEA P4HTM, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]

Relation: info:eu-repo/semantics/altIdentifier/pmid/35908151; hal-04610659; https://hal.sorbonne-universite.fr/hal-04610659; https://hal.sorbonne-universite.fr/hal-04610659/document; https://hal.sorbonne-universite.fr/hal-04610659/file/Clinical%20Genetics%20-%202022%20-%20Kraatari%E2%80%90Tiri%20-%20HIDEA%20syndrome%20is%20caused%20by%20biallelic%20pathogenic%20rare%20or%20founder%20P4HTM.pdf; PUBMED: 35908151; PUBMEDCENTRAL: PMC9804808

الاتاحة: https://hal.sorbonne-universite.fr/hal-04610659
https://hal.sorbonne-universite.fr/hal-04610659/document
https://hal.sorbonne-universite.fr/hal-04610659/file/Clinical%20Genetics%20-%202022%20-%20Kraatari%E2%80%90Tiri%20-%20HIDEA%20syndrome%20is%20caused%20by%20biallelic%20pathogenic%20rare%20or%20founder%20P4HTM.pdf
https://doi.org/10.1111/cge.14203

المؤلفون: Doyle, Jennifer L, Carroll, Christopher J, Corbally, Alison F, Fahey, Alan G

المساهمون: Department of Agriculture, Food and the Marine Research Stimulus Fund

المصدر: Translational Animal Science ; volume 6, issue 2 ; ISSN 2573-2102

الاتاحة: http://dx.doi.org/10.1093/tas/txac038
https://academic.oup.com/tas/advance-article-pdf/doi/10.1093/tas/txac038/43245956/txac038.pdf
https://academic.oup.com/tas/article-pdf/6/2/txac038/43533839/txac038.pdf

المؤلفون: Gut, Philipp, Matilainen, Sanna, Meyer, Jesse G., Pallijeff, Pieti, Richard, Joy, Carroll, Christopher J., Euro, Liliya, Jackson, Christopher B., Isohanni, Pirjo, Minassian, Berge A., Alkhater, Reem A., Ostergaard, Elsebet, Civiletto, Gabriele, Parisi, Alice, Thevenet, Jonathan, Rardin, Matthew J., He, Wenjuan, Nishida, Yuya, Newman, John C., Liu, Xiaojing, Christen, Stefan, Moco, Sofia, Locasale, Jason W., Schilling, Birgit, Suomalainen, Anu, Verdin, Eric

المساهمون: STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, University of Helsinki, Clinicum, HUS Children and Adolescents, Anu Wartiovaara / Principal Investigator, Children's Hospital, HUS Helsinki and Uusimaa Hospital District, Neuroscience Center, Helsinki Institute of Life Science HiLIFE, HUSLAB, Helsinki University Hospital Area

مصطلحات موضوعية: HIGH-RESOLUTION METABOLOMICS, DATA-INDEPENDENT ACQUISITION, QUANTITATIVE PROTEOMICS, ACETYLATION, ENCEPHALOMYOPATHY, DEFICIENCY, ACYLATION, SIRT5, METABOLISM, DESUCCINYLATION, Biomedicine

وصف الملف: application/pdf

Relation: The authors wish to thank Tuula Manninen, Babette Hollman, Anu Harju and Markus Innila for technical assistance. We thank Thierry Guillaud, Jose Sanchez, Eduardo Jiminez, and Noelie Rochat for assistance in the zebrafish facility, John C. Carrol for graphic design and Gary Howard for editing the manuscript. The study was supported by grants from the Academy of Finland, Sigrid Juselius Foundation, University of Helsinki and Helsinki University Hospital (to A.S.). This work was supported by the National Institute of Diabetes and Digestive and Kidney Diseases (R24 DK085610 E.V.). We acknowledge support from the NIH shared instrumentation grant for the TripleTOF system at the Buck Institute (1S10 OD016281, Buck Institute).; Gut , P , Matilainen , S , Meyer , J G , Pallijeff , P , Richard , J , Carroll , C J , Euro , L , Jackson , C B , Isohanni , P , Minassian , B A , Alkhater , R A , Ostergaard , E , Civiletto , G , Parisi , A , Thevenet , J , Rardin , M J , He , W , Nishida , Y , Newman , J C , Liu , X , Christen , S , Moco , S , Locasale , J W , Schilling , B , Suomalainen , A & Verdin , E 2020 , ' SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease ' , Nature Communications , vol. 11 , no. 1 , 5927 . https://doi.org/10.1038/s41467-020-19743-4; ORCID: /0000-0003-1035-6417/work/86940865; ORCID: /0000-0001-9705-3886/work/86941260; http://hdl.handle.net/10138/324423; bec7d328-b442-4c75-8415-885a3ad6844e; 000595871500005

الاتاحة: http://hdl.handle.net/10138/324423

المؤلفون: Isohanni, Pirjo, Carroll, Christopher J., Jackson, Christopher B., Pohjanpelto, Max, Lönnqvist, Tuula, Suomalainen, Anu

المساهمون: Research Programs Unit, Anu Wartiovaara / Principal Investigator, Research Programme for Molecular Neurology, Children's Hospital, Clinicum, Lastenneurologian yksikkö, University of Helsinki, Neuroscience Center, HUS Children and Adolescents

مصطلحات موضوعية: Neurosciences, Neurology and psychiatry, Biomedicine

وصف الملف: application/pdf

Relation: Isohanni , P , Carroll , C J , Jackson , C B , Pohjanpelto , M , Lönnqvist , T & Suomalainen , A 2018 , ' Reply to 'Letter to Editor by Finsterer J and Zarrouk-Mahjoub S : Phenotypic manifestations of the m.8969G > A variant' ' , Neurogenetics , vol. 19 , no. 2 , pp. 133-134 . https://doi.org/10.1007/s10048-018-0542-z; ORCID: /0000-0003-1035-6417/work/67135429; http://hdl.handle.net/10138/302424; a0b3493c-bca8-4dd3-880f-6aa926eeda3c; 85042542038; 000432523600008

الاتاحة: http://hdl.handle.net/10138/302424

المؤلفون: Ignatius, Erika, Isohanni, Pirjo, Pohjanpelto, Max, Lahermo, Päivi, Ojanen, Simo, Brilhante, Virginia, Palin, Eino, Suomalainen, Anu, Lönnqvist, Tuula, Carroll, Christopher J.

المساهمون: HUS Children and Adolescents, Research Programs Unit, University of Helsinki, Helsinki University Hospital Area, Lastenneurologian yksikkö, STEMM - Stem Cells and Metabolism Research Program, Faculty of Medicine, Anu Wartiovaara / Principal Investigator, Clinicum, Children's Hospital, Institute for Molecular Medicine Finland, Veterinary Biosciences, HUS Helsinki and Uusimaa Hospital District, Neuroscience Center

مصطلحات موضوعية: SPINOCEREBELLAR-ATAXIA, CEREBELLAR-ATAXIA, ONSET, MUTATIONS, PROTEIN, ASSOCIATION, ATROPHY, DELAY, MODEL, TOOL, Genetics, developmental biology, physiology, Neurosciences, Gynaecology and paediatrics

وصف الملف: application/pdf

Relation: This work was funded by the University of Helsinki, Helsinki University Hospital, Arvo and Lea Ylppo Foundation, Foundation for Pediatric Research, Paivikki and Sakari Sohlberg Foundation, Biomedicum Helsinki Foundation and Maire Taponen Foundation.; Ignatius , E , Isohanni , P , Pohjanpelto , M , Lahermo , P , Ojanen , S , Brilhante , V , Palin , E , Suomalainen , A , Lönnqvist , T & Carroll , C J 2020 , ' Genetic background of ataxia in children younger than 5 years in Finland ' , Neurology Genetics , vol. 6 , no. 4 , 444 . https://doi.org/10.1212/NXG.0000000000000444; ORCID: /0000-0003-3339-5742/work/84706575; http://hdl.handle.net/10138/322106; 6897ad59-eeb9-4621-afe7-43a04aa49f8b; 000586531700003

الاتاحة: http://hdl.handle.net/10138/322106

المؤلفون: Forsström, Saara, Jackson, Christopher B., Carroll, Christopher J., Kuronen, Mervi, Pirinen, Eija, Pradhan, Swagat, Marmyleva, Anastasiia, Auranen, Mari, Kleine, Iida-Marja, Khan, Nahid A., Roivainen, Anne, Marjamäki, Paivi, Liljenbäck, Heidi, Wang, Liya, Battersby, Brendan J., Richter, Uwe, Velagapudi, Vidya, Nikkanen, Joni, Euro, Liliya, Suomalainen, Anu

المساهمون: STEMM - Stem Cells and Metabolism Research Program, Research Programs Unit, Faculty of Medicine, University of Helsinki, Clinicum, CAMM - Research Program for Clinical and Molecular Metabolism, Department of Biochemistry and Developmental Biology, Eija Pirinen / Principal Investigator, HUS Neurocenter, Staff Services, Department of Neurosciences, Institute of Biotechnology, University Management, Molecular and Integrative Biosciences Research Programme, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, HUSLAB, Anu Wartiovaara / Principal Investigator

مصطلحات موضوعية: MULTIPLE DELETIONS, METABOLIC-ACTIVITY, DNA DELETIONS, BETA-KLOTHO, PPAR-ALPHA, MUSCLE, FGF21, OPA1, ACTIVATION, DEFICIENCIES, General medicine, internal medicine and other clinical medicine, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: The authors wish to thank A. Harju, M. Innila, T. Manninen, B. Hollmann, and A. Honkaniemi for technical contributions and expertise; the Functional Genomics Unit for virus production; the University of Helsinki Electron Microscopy Core Facility for their expertise in ultrastructural experiments; and the University of Helsinki Laboratory Animal Center. J. Palmio is thanked for patient recruitment. We wish to acknowledge funding support from the Academy of Finland (A.S. and B.J.B.), European Research Council, and Sigrid Juselius Foundation (A.S.); Swiss National Science Foundation and Novartis Foundation for Medical-Biological Research (C.J.); and Helsinki Biomedical Graduate Program, Maud Kuistila Memorial Foundation, Oskar Oflund Foundation, Waldemar von Frenkell's Foundation, and Biomedicum Helsinki Foundation (S.F.).; Forsström , S , Jackson , C B , Carroll , C J , Kuronen , M , Pirinen , E , Pradhan , S , Marmyleva , A , Auranen , M , Kleine , I-M , Khan , N A , Roivainen , A , Marjamäki , P , Liljenbäck , H , Wang , L , Battersby , B J , Richter , U , Velagapudi , V , Nikkanen , J , Euro , L & Suomalainen , A 2019 , ' Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions ' , Cell Metabolism , vol. 30 , no. 6 , pp. 1040-+ . https://doi.org/10.1016/j.cmet.2019.013.019; ORCID: /0000-0003-1610-6793/work/67133405; ORCID: /0000-0002-3173-6542/work/67134622; ORCID: /0000-0003-1035-6417/work/67135424; ORCID: /0000-0001-9705-3886/work/67135765; ORCID: /0000-0002-0724-6957/work/68614162; http://hdl.handle.net/10138/322295; 8fdcee9c-0406-4bfc-9d83-ec034247a198; 000500800300007

الاتاحة: http://hdl.handle.net/10138/322295

المؤلفون: Gut, Philipp, Matilainen, Sanna, Meyer, Jesse G., Pällijeff, Pieti, Richard, Joy, Carroll, Christopher J., Euro, Liliya, Jackson, Christopher B., Isohanni, Pirjo, Minassian, Berge A., Alkhater, Reem A., Østergaard, Elsebet, Civiletto, Gabriele, Parisi, Alice, Thevenet, Jonathan, Rardin, Matthew J., He, Wenjuan, Nishida, Yuya, Newman, John C., Liu, Xiaojing, Christen, Stefan, Moco, Sofia, Locasale, Jason W., Schilling, Birgit, Suomalainen, Anu, Verdin, Eric

المصدر: Gut , P , Matilainen , S , Meyer , J G , Pällijeff , P , Richard , J , Carroll , C J , Euro , L , Jackson , C B , Isohanni , P , Minassian , B A , Alkhater , R A , Østergaard , E , Civiletto , G , Parisi , A , Thevenet , J , Rardin , M J , He , W , Nishida , Y , Newman , J C , Liu , X , Christen , S , Moco , S , Locasale , J W ....

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/sucla2-mutations-cause-global-protein-succinylation-contributing-to-the-pathomechanism-of-a-hereditary-mitochondrial-disease(3eed9d20-a055-4e59-abcf-f469a814ed8f).html
https://doi.org/10.1038/s41467-020-19743-4
https://curis.ku.dk/ws/files/261153423/s41467_020_19743_4.pdf