De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

12 páginas

Autores:: Küry, Sébastien
Besnard, Thomas
Ebstein, Frédéric
Khan, Tahir N.
Gambin, Tomasz
Douglas, Jessica
Bacino, Carlos A.
Sanders, Stephan J.
Lehmann, Andrea
Latypova, Xénia
Khan, Kamal
Pacault, Mathilde
Sacharow, Stephanie
Glaser, Kimberly
Bieth, Eric
Perrin-Sabourin, Laurence
Jacquemont, Marie Line
Cho, Megan T
Roeder, Elizabeth
Denommé Pichon, Anne Sophie
Monaghan, Kristin G.
Yuan, Bo
Xia, Fan
Simon, Sylvain
Bonneau, Dominique
Parent, Philippe
Gilbert Dussardier, Brigitte
Odent, Sylvie
Toutain, Annick
Pasquier, Laurent
Barbouth, Deborah Sara
Shaw, Chad A.
Patel, Ankita
Smith, Janice L.
Bi, Weimin
Schmitt, Sébastien
Deb, Wallid
Nizon, Mathilde
Mercier, Sandra
Vincent, Marie
Rooryck, Caroline
Malan, Valérie
Briceño Balcázar, Ignacio
Gómez Gutiérrez, Alberto
Nugent, Kimberly M.
Gibson, James B.
Cogné, Benjamin
Lupski, James R.
Stessman, Holly A.F.
Eichler, Evan E.
Retterer, Kyle
Yang, Yaping
Redon, Richard
Katsanis, Nicholas
Rosenfeld, Jill A.
Kloetzel, Peter Michael
Golzio, Christelle
Bézieau, Stéphane
Stankiewicz, Paweł
Isidor, Bertrand

Tipo de recurso:

Fecha de publicación:: 2017

Institución:: Universidad de la Sabana

Repositorio:: Repositorio Universidad de la Sabana

Idioma:: eng

id	REPOUSABA2_24b1d1c62f295e38b9ef44d8d9771423
oai_identifier_str	oai:intellectum.unisabana.edu.co:10818/32978
network_acronym_str	REPOUSABA2
network_name_str	Repositorio Universidad de la Sabana
repository_id_str
dc.title.es_CO.fl_str_mv	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
title	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
spellingShingle	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder PSMD12 Intellectual disability Proteasome 26S RPN5 Ubiquitin Syndromic neurodevelopmental disorder
title_short	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
title_full	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
title_fullStr	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
title_full_unstemmed	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
title_sort	De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
dc.creator.fl_str_mv	Küry, Sébastien Besnard, Thomas Ebstein, Frédéric Khan, Tahir N. Gambin, Tomasz Douglas, Jessica Bacino, Carlos A. Sanders, Stephan J. Lehmann, Andrea Latypova, Xénia Khan, Kamal Pacault, Mathilde Sacharow, Stephanie Glaser, Kimberly Bieth, Eric Perrin-Sabourin, Laurence Jacquemont, Marie Line Cho, Megan T Roeder, Elizabeth Denommé Pichon, Anne Sophie Monaghan, Kristin G. Yuan, Bo Xia, Fan Simon, Sylvain Bonneau, Dominique Parent, Philippe Gilbert Dussardier, Brigitte Odent, Sylvie Toutain, Annick Pasquier, Laurent Barbouth, Deborah Sara Shaw, Chad A. Patel, Ankita Smith, Janice L. Bi, Weimin Schmitt, Sébastien Deb, Wallid Nizon, Mathilde Mercier, Sandra Vincent, Marie Rooryck, Caroline Malan, Valérie Briceño Balcázar, Ignacio Gómez Gutiérrez, Alberto Nugent, Kimberly M. Gibson, James B. Cogné, Benjamin Lupski, James R. Stessman, Holly A.F. Eichler, Evan E. Retterer, Kyle Yang, Yaping Redon, Richard Katsanis, Nicholas Rosenfeld, Jill A. Kloetzel, Peter Michael Golzio, Christelle Bézieau, Stéphane Stankiewicz, Paweł Isidor, Bertrand
dc.contributor.author.none.fl_str_mv	Küry, Sébastien Besnard, Thomas Ebstein, Frédéric Khan, Tahir N. Gambin, Tomasz Douglas, Jessica Bacino, Carlos A. Sanders, Stephan J. Lehmann, Andrea Latypova, Xénia Khan, Kamal Pacault, Mathilde Sacharow, Stephanie Glaser, Kimberly Bieth, Eric Perrin-Sabourin, Laurence Jacquemont, Marie Line Cho, Megan T Roeder, Elizabeth Denommé Pichon, Anne Sophie Monaghan, Kristin G. Yuan, Bo Xia, Fan Simon, Sylvain Bonneau, Dominique Parent, Philippe Gilbert Dussardier, Brigitte Odent, Sylvie Toutain, Annick Pasquier, Laurent Barbouth, Deborah Sara Shaw, Chad A. Patel, Ankita Smith, Janice L. Bi, Weimin Schmitt, Sébastien Deb, Wallid Nizon, Mathilde Mercier, Sandra Vincent, Marie Rooryck, Caroline Malan, Valérie Briceño Balcázar, Ignacio Gómez Gutiérrez, Alberto Nugent, Kimberly M. Gibson, James B. Cogné, Benjamin Lupski, James R. Stessman, Holly A.F. Eichler, Evan E. Retterer, Kyle Yang, Yaping Redon, Richard Katsanis, Nicholas Rosenfeld, Jill A. Kloetzel, Peter Michael Golzio, Christelle Bézieau, Stéphane Stankiewicz, Paweł Isidor, Bertrand
dc.subject.es_CO.fl_str_mv	PSMD12 Intellectual disability Proteasome 26S RPN5 Ubiquitin Syndromic neurodevelopmental disorder
topic	PSMD12 Intellectual disability Proteasome 26S RPN5 Ubiquitin Syndromic neurodevelopmental disorder
description	12 páginas
publishDate	2017
dc.date.issued.none.fl_str_mv	2017-02-02
dc.date.available.none.fl_str_mv	2018-05-21T17:00:15Z
dc.date.accessioned.none.fl_str_mv	5/21/2018 12:00
dc.type.en.fl_str_mv	article
dc.type.coarversion.fl_str_mv	http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.coar.fl_str_mv	http://purl.org/coar/resource_type/c_6501
dc.type.hasVersion.es_CO.fl_str_mv	publishedVersion
dc.identifier.citation.es_CO.fl_str_mv	Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., … Isidor, B. (2017). De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. American Journal of Human Genetics, 100(2), 352–363. http://doi.org/10.1016/j.ajhg.2017.01.003
dc.identifier.other.none.fl_str_mv	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294671/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294671/pdf/main.pdf
dc.identifier.uri.none.fl_str_mv	http://hdl.handle.net/10818/32978
dc.identifier.doi.none.fl_str_mv	10.1016/j.ajhg.2017.01.003
identifier_str_mv	Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., … Isidor, B. (2017). De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. American Journal of Human Genetics, 100(2), 352–363. http://doi.org/10.1016/j.ajhg.2017.01.003 10.1016/j.ajhg.2017.01.003
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294671/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294671/pdf/main.pdf http://hdl.handle.net/10818/32978
dc.language.iso.es_CO.fl_str_mv	eng
language	eng
dc.relation.ispartofseries.none.fl_str_mv	Am J Hum Genet. 2017 Feb 2; 100(2): 352–363
dc.rights.*.fl_str_mv	Attribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.coar.fl_str_mv	http://purl.org/coar/access_right/c_abf2
dc.rights.uri.*.fl_str_mv	http://creativecommons.org/licenses/by-nc-nd/4.0/
rights_invalid_str_mv	Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ http://purl.org/coar/access_right/c_abf2
dc.format.es_CO.fl_str_mv	application/pdf
dc.publisher.es_CO.fl_str_mv	The American Journal of Human Genetics
dc.source.es_CO.fl_str_mv	Universidad de La Sabana Intellectum Repositorio Universidad de La Sabana
institution	Universidad de la Sabana
bitstream.url.fl_str_mv	https://intellectum.unisabana.edu.co/bitstream/10818/32978/3/license.txt https://intellectum.unisabana.edu.co/bitstream/10818/32978/2/license_rdf
bitstream.checksum.fl_str_mv	f52a2cfd4df262e08e9b300d62c85cab 7c9ab7f006165862d8ce9ac5eac01552
bitstream.checksumAlgorithm.fl_str_mv	MD5 MD5
repository.name.fl_str_mv	Intellectum Universidad de la Sabana
repository.mail.fl_str_mv	contactointellectum@unisabana.edu.co
_version_	1811952264745582592
spelling	Küry, SébastienBesnard, ThomasEbstein, FrédéricKhan, Tahir N.Gambin, TomaszDouglas, JessicaBacino, Carlos A.Sanders, Stephan J.Lehmann, AndreaLatypova, XéniaKhan, KamalPacault, MathildeSacharow, StephanieGlaser, KimberlyBieth, EricPerrin-Sabourin, LaurenceJacquemont, Marie LineCho, Megan TRoeder, ElizabethDenommé Pichon, Anne SophieMonaghan, Kristin G.Yuan, BoXia, FanSimon, SylvainBonneau, DominiqueParent, PhilippeGilbert Dussardier, BrigitteOdent, SylvieToutain, AnnickPasquier, LaurentBarbouth, Deborah SaraShaw, Chad A.Patel, AnkitaSmith, Janice L.Bi, WeiminSchmitt, SébastienDeb, WallidNizon, MathildeMercier, SandraVincent, MarieRooryck, CarolineMalan, ValérieBriceño Balcázar, IgnacioGómez Gutiérrez, AlbertoNugent, Kimberly M.Gibson, James B.Cogné, BenjaminLupski, James R.Stessman, Holly A.F.Eichler, Evan E.Retterer, KyleYang, YapingRedon, RichardKatsanis, NicholasRosenfeld, Jill A.Kloetzel, Peter MichaelGolzio, ChristelleBézieau, StéphaneStankiewicz, PawełIsidor, Bertrand5/21/2018 12:002018-05-21T17:00:15Z2017-02-02Küry, S., Besnard, T., Ebstein, F., Khan, T. N., Gambin, T., Douglas, J., … Isidor, B. (2017). De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. American Journal of Human Genetics, 100(2), 352–363. http://doi.org/10.1016/j.ajhg.2017.01.003https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294671/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294671/pdf/main.pdfhttp://hdl.handle.net/10818/3297810.1016/j.ajhg.2017.01.00312 páginasTrichosporon asahii es un hongo patógeno emergente reportado en la literatura médica principalmente en pacientes inmunocomprometidos. No obstante, el presente caso es inusual debido a que se trata de un paciente adulto joven inmunocompetente que presentó fungemia por T. asahii y al mismo tiempo desarrolló insuficiencia respiratoria aguda por bronquiolitis respiratoria y neumonía descamativa, la cual resolvió posterior al tratamiento antimicótico instaurado, soporte ventilatorio y vigilancia en Unidad de Cuidado Intesivo (UCI).Degradation of proteins by the ubiquitin-proteasome system (UPS) is an essential biological process in the development of eukaryotic organisms. Dysregulation of this mechanism leads to numerous human neurodegenerative or neurodevelopmental disorders. Through a multi-center collaboration, we identified six de novo genomic deletions and four de novo point mutations involving PSMD12, encoding the non-ATPase subunit PSMD12 (aka RPN5) of the 19S regulator of 26S proteasome complex, in unrelated individuals with intellectual disability, congenital malformations, ophthalmologic anomalies, feeding difficulties, deafness, and subtle dysmorphic facial features. We observed reduced PSMD12 levels and an accumulation of ubiquitinated proteins without any impairment of proteasome catalytic activity. Our PSMD12 loss-of-function zebrafish CRISPR/Cas9 model exhibited microcephaly, decreased convolution of the renal tubules, and abnormal craniofacial morphology. Our data support the biological importance of PSMD12 as a scaffolding subunit in proteasome function during development and neurogenesis in particular; they enable the definition of a neurodevelopmental disorder due to PSMD12 variants, expanding the phenotypic spectrum of UPS-dependent disorders.application/pdfengThe American Journal of Human GeneticsAm J Hum Genet. 2017 Feb 2; 100(2): 352–363Attribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/http://purl.org/coar/access_right/c_abf2Universidad de La SabanaIntellectum Repositorio Universidad de La SabanaPSMD12Intellectual disabilityProteasome 26SRPN5UbiquitinSyndromic neurodevelopmental disorderDe Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderarticlepublishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501LICENSElicense.txtlicense.txttext/plain; charset=utf-8498https://intellectum.unisabana.edu.co/bitstream/10818/32978/3/license.txtf52a2cfd4df262e08e9b300d62c85cabMD53CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-81223https://intellectum.unisabana.edu.co/bitstream/10818/32978/2/license_rdf7c9ab7f006165862d8ce9ac5eac01552MD5210818/32978oai:intellectum.unisabana.edu.co:10818/329782022-05-10 05:17:27.113Intellectum Universidad de la Sabanacontactointellectum@unisabana.edu.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

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Publicaciones similares