Decipher non-canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4).

Humans Mutation Paraplegia / genetics Spastic Paraplegia, Hereditary / genetics Spastin / genetics

Journal

Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664

Informations de publication

Date de publication:
08 2022
Historique:
revised: 29 03 2022
received: 11 02 2022
accepted: 14 04 2022
pubmed: 8 5 2022
medline: 9 7 2022
entrez: 7 5 2022
Statut: ppublish

Résumé

Flowchart showing the molecular approach used to decipher the non-canonical splicing mutations.

Identifiants

DOI: 10.1111/cge.14142 PMID: 35524423
pubmed: 35524423
doi: 10.1111/cge.14142
doi:

Substances chimiques

Spastin EC 3.6.4.3
SPAST protein, human EC 5.6.1.1

Types de publication

Letter Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

155-156

Informations de copyright

© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.

Références

Wang GS, Cooper TA. Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet. 2007;8(10):749-761. doi:10.1038/nrg2164
He WB, Xiao WJ, Dai CL, et al. RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders. J Med Genet. 2022;108013. doi:10.1136/jmedgenet-2021-108013

Auteurs

Rosangela Ferese (R)

IRCCS Neuromed, Pozzilli, Italy.

Simona Scala (S)

IRCCS Neuromed, Pozzilli, Italy.

Antonio Suppa (A)

IRCCS Neuromed, Pozzilli, Italy.
Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.

Rosa Campopiano (R)

IRCCS Neuromed, Pozzilli, Italy.

Francesco Asci (F)

IRCCS Neuromed, Pozzilli, Italy.
Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.

Maria Antonietta Chiaravalloti (MA)

IRCCS Neuromed, Pozzilli, Italy.

Alessandro Zampogna (A)

Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.

Carmelo D'Alessio (C)

IRCCS Neuromed, Pozzilli, Italy.

Filomena Fittipaldi (F)

IRCCS Neuromed, Pozzilli, Italy.

Fabio Buttari (F)

IRCCS Neuromed, Pozzilli, Italy.

Alba Di Pardo (A)

IRCCS Neuromed, Pozzilli, Italy.

Emiliano Giardina (E)

Genomic Medicine Laboratory, IRCCS Fondazione Santa Lucia, Rome, Italy.

Stefania Zampatti (S)

Genomic Medicine Laboratory, IRCCS Fondazione Santa Lucia, Rome, Italy.

Francesco Fornai (F)

IRCCS Neuromed, Pozzilli, Italy.
Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.

Giuseppe Novelli (G)

IRCCS Neuromed, Pozzilli, Italy.
Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.

Mirco Fanelli (M)

Department of Biomolecular Sciences, University of Urbino "Carlo Bo", Urbino, Italy.

Chiara Zecca (C)

Center for Neurodegenerative Diseases and the Aging Brain, Department of Clinical Research in Neurology, Bari University, "Pia Fondazione Card G.Panico" Lecce, Bari, Italy.

Giancarlo Logroscino (G)

Center for Neurodegenerative Diseases and the Aging Brain, Department of Clinical Research in Neurology, Bari University, "Pia Fondazione Card G.Panico" Lecce, Bari, Italy.

Diego Centonze (D)

IRCCS Neuromed, Pozzilli, Italy.
Department of Systems Medicine, Tor Vergata University, Rome, Italy.

Stefano Gambardella (S)

IRCCS Neuromed, Pozzilli, Italy.
Department of Biomolecular Sciences, University of Urbino "Carlo Bo", Urbino, Italy.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Decipher non-canonical SPAST splicing...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Decipher non-canonical SPAST splicing...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Paralysie › Paraplégie › Decipher non-canonical SPAST splicing...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Neuropathie héréditaire motrice et sensitive › Paraplégie spasmodique héréditaire › Decipher non-canonical SPAST splicing...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Protéines associées aux microtubules › Spastine › Decipher non-canonical SPAST splicing...