Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
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Author / Creator
Kour, Sukhleen , Rajan, Deepa S. , Fortuna, Tyler R. , Anderson, Eric N. , Ward, Caroline , Lee, Youngha , Lee, Sangmoon , Shin, Yong Beom , Chae, Jong-Hee , Choi, Murim , Siquier, Karine , Cantagrel, Vincent , Amiel, Jeanne , Stolerman, Elliot S. , Barnett, Sarah S. , Cousin, Margot A. , Castro, Diana , McDonald, Kimberly , Kirmse, Brian , Nemeth, Andrea H. , Rajasundaram, Dhivyaa , Innes, A. Micheil , Lynch, Danielle , Frosk, Patrick , Collins, Abigail , Gibbons, Melissa , Yang, Michele , Desguerre, Isabelle , Boddaert, Nathalie , Gitiaux, Cyril , Rydning, Siri Lynne , Selmer, Kaja K. , Urreizti, Roser , Garcia-Oguiza, Alberto , Osorio, Andrés Nascimento , Verdura, Edgard , Pujol, Aurora , McCurry, Hannah R. , Landers, John E. , Agnihotri, Sameer , Andriescu, E. Corina , Moody, Shade B. , Phornphutkul, Chanika , Sacoto, Maria J. Guillen , Begtrup, Amber , Houlden, Henry , Kirschner, Janbernd , Schorling, David , Rudnik-Schöneborn, Sabine , Strom, Tim M. , Leiz, Steffen , Juliette, Kali , Richardson, Randal , Yang, Ying , Zhang, Yuehua , Wang, Minghui , Wang, Jia , Wang, Xiaodong , Platzer, Konrad , Donkervoort, Sandra , Bönnemann, Carsten G. , Wagner, Matias , Issa, Mahmoud Y. , Elbendary, Hasnaa M. , Stanley, Valentina , Maroofian, Reza , Gleeson, Joseph G. , Zaki, Maha S. , Senderek, Jan and Pandey, Udai Bhan
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
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 affected individuals from 22 unrelated families presenting with developmental delay, hypotonia, and c...
Alternative Titles
Full title
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Authors, Artists and Contributors
Author / Creator
Rajan, Deepa S.
Fortuna, Tyler R.
Anderson, Eric N.
Ward, Caroline
Lee, Youngha
Lee, Sangmoon
Shin, Yong Beom
Chae, Jong-Hee
Choi, Murim
Siquier, Karine
Cantagrel, Vincent
Amiel, Jeanne
Stolerman, Elliot S.
Barnett, Sarah S.
Cousin, Margot A.
Castro, Diana
McDonald, Kimberly
Kirmse, Brian
Nemeth, Andrea H.
Rajasundaram, Dhivyaa
Innes, A. Micheil
Lynch, Danielle
Frosk, Patrick
Collins, Abigail
Gibbons, Melissa
Yang, Michele
Desguerre, Isabelle
Boddaert, Nathalie
Gitiaux, Cyril
Rydning, Siri Lynne
Selmer, Kaja K.
Urreizti, Roser
Garcia-Oguiza, Alberto
Osorio, Andrés Nascimento
Verdura, Edgard
Pujol, Aurora
McCurry, Hannah R.
Landers, John E.
Agnihotri, Sameer
Andriescu, E. Corina
Moody, Shade B.
Phornphutkul, Chanika
Sacoto, Maria J. Guillen
Begtrup, Amber
Houlden, Henry
Kirschner, Janbernd
Schorling, David
Rudnik-Schöneborn, Sabine
Strom, Tim M.
Leiz, Steffen
Juliette, Kali
Richardson, Randal
Yang, Ying
Zhang, Yuehua
Wang, Minghui
Wang, Jia
Wang, Xiaodong
Platzer, Konrad
Donkervoort, Sandra
Bönnemann, Carsten G.
Wagner, Matias
Issa, Mahmoud Y.
Elbendary, Hasnaa M.
Stanley, Valentina
Maroofian, Reza
Gleeson, Joseph G.
Zaki, Maha S.
Senderek, Jan
Pandey, Udai Bhan
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_89c11aed01764fe28b3d252a2c5bccf7
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_89c11aed01764fe28b3d252a2c5bccf7
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-021-22627-w
