Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Autor: Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

GEMIN5, an RNA-binding protein, is required for formation of small nuclear ribonucleoproteins. Here, the authors identify loss of function mutations in GEMIN5 that are associated with a human neurodevelopmental disorder.

Externí odkaz: https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf7

Optogenetic TDP-43 nucleation induces persistent insoluble species and progressive motor dysfunction in vivo

Autor: Charlton G. Otte, Tyler R. Fortuna, Jacob R. Mann, Amanda M. Gleixner, Nandini Ramesh, Noah J. Pyles, Udai B. Pandey, Christopher J. Donnelly

Publikováno v: Neurobiology of Disease, Vol 146, Iss , Pp 105078- (2020)

TDP-43 is a predominantly nuclear DNA/RNA binding protein that is often mislocalized into insoluble cytoplasmic inclusions in post-mortem patient tissue in a variety of neurodegenerative disorders including Amyotrophic Lateral Sclerosis (ALS) and Fro

Externí odkaz: https://doaj.org/article/baa924d59c9e4f35af49422a6a7a2c8d

Pathogenic variants of Valosin-containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells

Autor: Veronica Ferrari, Riccardo Cristofani, Maria E. Cicardi, Barbara Tedesco, Valeria Crippa, Marta Chierichetti, Elena Casarotto, Marta Cozzi, Francesco Mina, Mariarita Galbiati, Margherita Piccolella, Serena Carra, Thomas Vaccari, Angele Nalbandian, Virginia Kimonis, Tyler R. Fortuna, Udai B. Pandey, Maria C. Gagliani, Katia Cortese, Paola Rusmini, Angelo Poletti

Mutations in the valosin-containing protein (VCP) gene cause various lethal proteinopathies that mainly include inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) and amyotrophic lateral sclerosis (ALS). Differe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44c1ced20d9cbccee8e3fbbbd646df8d
https://hdl.handle.net/11380/1287009

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Autor: Danielle C. Lynch, Jia Wang, Aurora Pujol, Henry Houlden, Diana Castro, Xiaodong Wang, Jan Senderek, Shade B. Moody, Melissa Gibbons, Tim M. Strom, Abigail Collins, Jong Hee Chae, John Landers, Udai Bhan Pandey, Tyler R. Fortuna, Reza Maroofian, Hannah R. McCurry, Andrea H. Németh, Yuehua Zhang, Nathalie Boddaert, Carsten G. Bönnemann, Sabine Rudnik-Schöneborn, Vincent Cantagrel, Kali Juliette, Jeanne Amiel, Amber Begtrup, Sangmoon Lee, David Schorling, Chanika Phornphutkul, Konrad Platzer, E. Corina Andriescu, Roser Urreizti, Eric N. Anderson, Cyril Gitiaux, Randal Richardson, Maha S. Zaki, Matias Wagner, Hasnaa M. Elbendary, Dhivyaa Rajasundaram, Brian Kirmse, Murim Choi, Sandra Donkervoort, Joseph G. Gleeson, Steffen Leiz, Mahmoud Y. Issa, Valentina Stanley, Patrick Frosk, Siri Lynne Rydning, Karine Siquier, Janbernd Kirschner, Sameer Agnihotri, Sarah S. Barnett, Isabelle Desguerre, Michele Yang, Yong Beom Shin, Deepa S. Rajan, Margot A. Cousin, Andrés Nascimento Osorio, A. Micheil Innes, Ying Yang, Elliot S. Stolerman, Youngha Lee, Kimberly McDonald, Alberto Garcia-Oguiza, Edgard Verdura, Caroline Ward, Maria J. Guillen Sacoto, Minghui Wang, Sukhleen Kour, Kaja Kristine Selmer

Publikováno v: NATURE COMMUNICATIONS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Nature Communications
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Universidad de Alicante (UA)
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs), the building blocks of spliceosomes. Here, we have identified 30 a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ed9687e3344ab597c47489b1520ba6f
https://doi.org/10.1038/s41467-021-22627-w

Optogenetic TDP-43 nucleation induces persistent insoluble species and progressive motor dysfunction in vivo

Autor: Tyler R. Fortuna, Noah J. Pyles, Udai Bhan Pandey, Christopher J. Donnelly, Jacob R. Mann, Nandini Ramesh, Charlton Otte, Amanda M. Gleixner

Publikováno v: Neurobiology of Disease, Vol 146, Iss, Pp 105078-(2020)
Neurobiol Dis

TDP-43 is a predominantly nuclear DNA/RNA binding protein that is often mislocalized into insoluble cytoplasmic inclusions in post-mortem patient tissue in a variety of neurodegenerative disorders, most notably, Amyotrophic Lateral Sclerosis (ALS), a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::960c4fc499bb5228bbe570641fe56208
http://www.sciencedirect.com/science/article/pii/S0969996120303533