NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.

NUP85 developmental delay epileptic spasm microcephaly nephrotic syndrome type 17 steroid-resistant nephrotic syndrome

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
27 Nov 2023
Historique:
received: 10 10 2023
revised: 20 11 2023
accepted: 26 11 2023
medline: 23 12 2023
pubmed: 23 12 2023
entrez: 23 12 2023
Statut: epublish

Résumé

Pathogenic gene variants encoding nuclear pore complex (NPC) proteins were previously implicated in the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). The

Identifiants

DOI: 10.3390/genes14122143 PMID: 38136965
pubmed: 38136965
pii: genes14122143
doi: 10.3390/genes14122143
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Antonella Gambadauro (A)

Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.
ORCID: 0000-0002-7421-0903

Giuseppe Donato Mangano (GD)

Department of Biomedicine, Neuroscience and Advanced Diagnostics, University of Palermo, 90127 Palermo, Italy.
ORCID: 0000-0001-6541-3170

Karol Galletta (K)

Department of Biomedical, Dental Science and Morphological and Functional Images, Neuroradiology Unit, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.

Francesca Granata (F)

Department of Biomedical, Dental Science and Morphological and Functional Images, Neuroradiology Unit, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.

Antonella Riva (A)

Unit of Medical Genetics, IRCSS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.

Laura Massella (L)

Division of Nephrology, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00165 Rome, Italy.

Isabella Guzzo (I)

Division of Nephrology, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 00165 Rome, Italy.

Giovanni Farello (G)

Department of Pediatrics, University of L'Aquila, 67100 L'Aquila, Italy.

Giovanna Scorrano (G)

Department of Pediatrics, University of L'Aquila, 67100 L'Aquila, Italy.

Ludovica Di Francesco (L)

Department of Pediatrics, University of L'Aquila, 67100 L'Aquila, Italy.
ORCID: 0000-0002-3889-1318

Giulio Di Donato (G)

Department of Pediatrics, University of L'Aquila, 67100 L'Aquila, Italy.
ORCID: 0000-0002-3979-9265

Carolina Ianni (C)

Department of Pediatrics, University of L'Aquila, 67100 L'Aquila, Italy.

Armando Di Ludovico (A)

Department of Pediatrics, University of L'Aquila, 67100 L'Aquila, Italy.
ORCID: 0000-0002-2644-1475

Saverio La Bella (S)

Department of Pediatrics, University of L'Aquila, 67100 L'Aquila, Italy.
ORCID: 0000-0002-1244-0789

Pasquale Striano (P)

Unit of Medical Genetics, IRCSS Giannina Gaslini Institute, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Via Gerolamo Gaslini 5, 16147 Genoa, Italy.
ORCID: 0000-0002-6065-1476

Stephanie Efthymiou (S)

Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
ORCID: 0000-0003-4900-9877

Henry Houlden (H)

Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

Rosaria Nardello (R)

Department of Biomedicine, Neuroscience and Advanced Diagnostics, University of Palermo, 90127 Palermo, Italy.

Roberto Chimenz (R)

Department of Human Pathology in Adult and Developmental Age "Gaetano Barresi", University of Messina, Via Consolare Valeria 1, 98124 Messina, Italy.
ORCID: 0000-0001-9143-4637

Classifications MeSH