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Article

NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.

Genes - 27 Nov 2023

Gambadauro Antonella, Mangano Giuseppe Donato, Galletta Karol, Granata Francesca, Riva Antonella, Massella Laura, Guzzo Isabella, Farello Giovanni, Scorrano Giovanna, Di Francesco Ludovica, Di Donato Giulio, Ianni Carolina, Di Ludovico Armando, La Bella Saverio, Striano Pasquale, Efthymiou Stephanie, Houlden Henry, Nardello Rosaria, Chimenz Roberto

Abstract excerpt

Pathogenic gene variants encoding nuclear pore complex (NPC) proteins were previously implicated in the pathogenesis of steroid-resistant nephrotic syndrome (SRNS). The NUP85 gene, encoding nucleoporin, is related to a very rare form of SRNS with limited genotype-phenotype information. We identified an Italian boy affected with an SRNS associated with severe neurodevelopmental impairment characterized by...

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Identifiers

PMID: 38136965
DOI: 10.3390/genes14122143
PMCID: PMC10743110

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Related research

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NUP85 as a Neurodevelopmental Gene: From Podocyte to Neuron.PMID 38136965Read ↗

Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.Semantic proximity Read ↗

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.Semantic proximity Read ↗

A Novel NUP85 Variant Expanding the Phenotypic Spectrum of NUP85-Associated Steroid-Resistant Nephrotic Syndrome.Semantic proximity Read ↗

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.Semantic proximity Read ↗

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.Semantic proximity Read ↗

WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.Semantic proximity Read ↗

NUP133 Controls Nuclear Pore Assembly, Transcriptome Composition, and Cytoskeleton Regulation in PodocytesSemantic proximity Read ↗

A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report.Semantic proximity Read ↗

From the sideline: Tissue-specific nucleoporin function in health and disease, an update.Semantic proximity Read ↗

Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndromeSemantic proximity Read ↗

Homozygous splicing mutation in NUP13 3 causes Galloway–Mowat syndromeSemantic proximity Read ↗

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