Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Autor: Feichtinger R. G., Olahova M., Kishita Y., Garone C., Kremer L. S., Yagi M., Uchiumi T., Jourdain A. A., Thompson K., D'Souza A. R., Kopajtich R., Alston C. L., Koch J., Sperl W., Mastantuono E., Strom T. M., Wortmann S. B., Meitinger T., Pierre G., Chinnery P. F., Chrzanowska-Lightowlers Z. M., Lightowlers R. N., DiMauro S., Calvo S. E., Mootha V. K., Moggio M., Sciacco M., Comi G. P., Ronchi D., Murayama K., Ohtake A., Rebelo-Guiomar P., Kohda M., Kang D., Mayr J. A., Taylor R. W., Okazaki Y., Minczuk M., Prokisch H.

Publikováno v: American Journal of Human Genetics
American journal of human genetics, vol. 101, no. 4, pp. 525-538

Complement component 1 Q subcomponent-binding protein (C1QBP; also known as p32) is a multi-compartmental protein whose precise function remains unknown. It is an evolutionary conserved multifunctional protein localized primarily in the mitochondrial

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8ac8c0023b11fdbacad4cbc67120937c
http://europepmc.org/articles/PMC5630164

A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression

Autor: Wilson, W. C., Hornig-Do, H.-T., Bruni, F., Chang, J. H., Jourdain, A. A., Martinou, J.-C., Falkenberg, M., Spahr, H., Larsson, N.-G., Lewis, R. J., Hewitt, L., Basle, A., Cross, H. E., Tong, L., Lebel, R. R., Crosby, A. H., Chrzanowska-Lightowlers, Z. M. A., Lightowlers, R. N.

Publikováno v: Human Molecular Genetics
Hum Mol Genet
Human molecular genetics
Human molecular genetics, vol. 23, no. 23, pp. 6345-6355

The p.N478D missense mutation in human mitochondrial poly(A) polymerase (mtPAP) has previously been implicated in a form of spastic ataxia with optic atrophy. In this study, we have investigated fibroblast cell lines established from family members.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9b8f57c426fcc56159d426a24768f329
http://europepmc.org/articles/PMC4222368

Tissue clearing and three-dimensional imaging of intact tissues: a review on FACT protocol.

Autor: Farrar, Zohreh¹ (AUTHOR), Afshar, Alireza¹ (AUTHOR), Zare, Afshin² (AUTHOR), Mussin, Nadiar M.³ (AUTHOR), Kaliyev, Asset A.³ (AUTHOR), Zhilisbayeva, Kulyash R.⁴ (AUTHOR), Mahdipour, Mahdi^5,6 (AUTHOR), Tamadon, Amin^2,7 (AUTHOR) amintamaddon@yahoo.com

Publikováno v: Journal of Histotechnology. Sep2024, Vol. 47 Issue 3, p126-142. 17p.

Nonrandom tissue distribution of mutant mtDNA

Autor: Chinnery, P F, Zwijnenburg, P J, Walker, M, Howell, N, Taylor, R W, Lightowlers, R N, Bindoff, L, Turnbull, D M

Publikováno v: American Journal of Medical Genetics Part A, 85(5), 498-501. Wiley-Liss Inc.
Chinnery, P F, Zwijnenburg, P J, Walker, M, Howell, N, Taylor, R W, Lightowlers, R N, Bindoff, L & Turnbull, D M 1999, ' Nonrandom tissue distribution of mutant mtDNA ', American Journal of Medical Genetics Part A, vol. 85, no. 5, pp. 498-501 .

Heteroplasmic mitochondrial DNA (mtDNA) defects are an important cause of inherited human disease. On a cellular level, the percentage of mutant mtDNA is the principal factor behind the expression of the genetic defect. Marked variation in the level

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::45d6f9fb9b60ccf5b617cecb67890e66
https://research.vumc.nl/en/publications/34f975f5-efd9-49e7-a93c-38bc1562375c

Heterozygous de novo dominant negative mutation of REXO2 results in interferonopathy.

Autor: Idiiatullina E; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China.; Department of Therapy and Nursing, Bashkir State Medical University, Ufa, Russia.; Department of Pathology, Immunology and Laboratory Medicine, Center for Immunity and Inflammation, Rutgers New Jersey Medical School, Newark, USA., Al-Azab M; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China.; Department of Medical Microbiology, Faculty of Medicine, University of Science and Technology, Aden, Yemen., Lin M; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China., Hrovat-Schaale K; Department of Therapy and Nursing, Bashkir State Medical University, Ufa, Russia.; Department of Medical Microbiology, Faculty of Medicine, University of Science and Technology, Aden, Yemen., Liu Z; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China., Li X; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China., Guo C; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China., Chen X; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China., Li Y; State Key Laboratory of Oncology in South China, Guangdong Provincial Clinical Research Center, Sun Yat-sen University Cancer Center, Guangzhou, China., Gao S; State Key Laboratory of Oncology in South China, Guangdong Provincial Clinical Research Center, Sun Yat-sen University Cancer Center, Guangzhou, China., Cui J; School of Life Sciences, Sun Yat-sen University, Guangzhou, China., Zhou W; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China., Liu L; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China. liliuchina@qq.com., Zhang Y; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China. yuxia.zhang@gwcmc.org., Masters SL; Department of Genetics and Endocrinology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangzhou, China. seth.masters@hudson.org.au.; Inflammation Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia. seth.masters@hudson.org.au.; Department of Medical Biology, The University of Melbourne, Parkville, Australia. seth.masters@hudson.org.au.; Centre for Innate Immunity and Infectious Diseases, Hudson Institute of Medical Research, Clayton, VIC, Australia. seth.masters@hudson.org.au.; Department of Molecular and Translational Science, Monash University, Clayton, VIC, Australia. seth.masters@hudson.org.au.

Publikováno v: Nature communications [Nat Commun] 2024 Aug 06; Vol. 15 (1), pp. 6685. Date of Electronic Publication: 2024 Aug 06.