Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease

The PLEKHG5 gene encodes a protein that activates the nuclear factor kappa B (NFκB) signaling pathway. Mutations in this gene have been associated with distal spinal muscular atrophy IV and intermediate axonal neuropathy C, both with an autosomal recessive mode of inheritance. Two families with low...

Full description

Bibliographic Details
Authors: González Quereda, Lidia|||0000-0003-0715-6414, Pagola-Lorz, Inma, Fuentes Prior, Pablo, Bernal, Sara|||0000-0003-4427-0574, Rodriguez Fernandez, María José, Torné, Laura, Salgado-Garrido, Josefa|||0000-0002-2764-8507, Gallano, Pia|||0000-0001-8104-2197, Jericó-Pascual, Ivonne|||0000-0003-4262-6370
Format: article
Publication Date:2021
Country:España
Institution:Universitat Autònoma de Barcelona
Repository:Dipòsit Digital de Documents de la UAB
Language:English
OAI Identifier:oai:ddd.uab.cat:270167
Online Access:https://ddd.uab.cat/record/270167
https://dx.doi.org/urn:doi:10.1002/acn3.51265
Access Level:Open access
Keyword:Adult
Frameshift Mutation
Guanine Nucleotide Exchange Factors
Humans
Male
Motor Neuron Disease
Pedigree
id ES_87dc5deee055a3b55910c6fa69ea9d14
oai_identifier_str oai:ddd.uab.cat:270167
network_acronym_str ES
network_name_str España
repository_id_str
spelling Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron diseaseGonzález Quereda, Lidia|||0000-0003-0715-6414Pagola-Lorz, InmaFuentes Prior, PabloBernal, Sara|||0000-0003-4427-0574Rodriguez Fernandez, María JoséTorné, LauraSalgado-Garrido, Josefa|||0000-0002-2764-8507Gallano, Pia|||0000-0001-8104-2197Jericó-Pascual, Ivonne|||0000-0003-4262-6370AdultFrameshift MutationGuanine Nucleotide Exchange FactorsHumansMaleMotor Neuron DiseasePedigreeThe PLEKHG5 gene encodes a protein that activates the nuclear factor kappa B (NFκB) signaling pathway. Mutations in this gene have been associated with distal spinal muscular atrophy IV and intermediate axonal neuropathy C, both with an autosomal recessive mode of inheritance. Two families with low motor neuron disease (LMND) caused by mutations in PLEKHG5 have been reported to date. We present a third LMND family, the first nonconsanguineous, due to two not previously reported PLEKHG5 mutations. Our results confirm and extend previous findings linking PLEKHG5 mutations to lower motor neuron diseases. 22021-01-0120212021-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/270167https://dx.doi.org/urn:doi:10.1002/acn3.51265reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengInstituto de Salud Carlos III https://doi.org/10.13039/501100004587 FISPI18/01585open accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.https://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2701672026-06-06T12:50:31Z
dc.title.none.fl_str_mv Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease
title Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease
spellingShingle Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease
González Quereda, Lidia|||0000-0003-0715-6414
Adult
Frameshift Mutation
Guanine Nucleotide Exchange Factors
Humans
Male
Motor Neuron Disease
Pedigree
title_short Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease
title_full Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease
title_fullStr Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease
title_full_unstemmed Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease
title_sort Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease
dc.creator.none.fl_str_mv González Quereda, Lidia|||0000-0003-0715-6414
Pagola-Lorz, Inma
Fuentes Prior, Pablo
Bernal, Sara|||0000-0003-4427-0574
Rodriguez Fernandez, María José
Torné, Laura
Salgado-Garrido, Josefa|||0000-0002-2764-8507
Gallano, Pia|||0000-0001-8104-2197
Jericó-Pascual, Ivonne|||0000-0003-4262-6370
author González Quereda, Lidia|||0000-0003-0715-6414
author_facet González Quereda, Lidia|||0000-0003-0715-6414
Pagola-Lorz, Inma
Fuentes Prior, Pablo
Bernal, Sara|||0000-0003-4427-0574
Rodriguez Fernandez, María José
Torné, Laura
Salgado-Garrido, Josefa|||0000-0002-2764-8507
Gallano, Pia|||0000-0001-8104-2197
Jericó-Pascual, Ivonne|||0000-0003-4262-6370
author_role author
author2 Pagola-Lorz, Inma
Fuentes Prior, Pablo
Bernal, Sara|||0000-0003-4427-0574
Rodriguez Fernandez, María José
Torné, Laura
Salgado-Garrido, Josefa|||0000-0002-2764-8507
Gallano, Pia|||0000-0001-8104-2197
Jericó-Pascual, Ivonne|||0000-0003-4262-6370
author2_role author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Adult
Frameshift Mutation
Guanine Nucleotide Exchange Factors
Humans
Male
Motor Neuron Disease
Pedigree
topic Adult
Frameshift Mutation
Guanine Nucleotide Exchange Factors
Humans
Male
Motor Neuron Disease
Pedigree
description The PLEKHG5 gene encodes a protein that activates the nuclear factor kappa B (NFκB) signaling pathway. Mutations in this gene have been associated with distal spinal muscular atrophy IV and intermediate axonal neuropathy C, both with an autosomal recessive mode of inheritance. Two families with low motor neuron disease (LMND) caused by mutations in PLEKHG5 have been reported to date. We present a third LMND family, the first nonconsanguineous, due to two not previously reported PLEKHG5 mutations. Our results confirm and extend previous findings linking PLEKHG5 mutations to lower motor neuron diseases.
publishDate 2021
dc.date.none.fl_str_mv 2
2021-01-01
2021
2021-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/270167
https://dx.doi.org/urn:doi:10.1002/acn3.51265
url https://ddd.uab.cat/record/270167
https://dx.doi.org/urn:doi:10.1002/acn3.51265
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 FISPI18/01585
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869412493432979456
score 15,301603

Similar Items