Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants.

Neuromuscular disorders : NMD - 1 Apr 2023

Sadr Zahra, Ghasemi Aida, Rohani Mohammad, Alavi Afagh

Abstract excerpt

In the NAD biosynthetic network, the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme fuels NAD as a co-substrate for a group of enzymes. Mutations in the nuclear-specific isoform, NMNAT1, have been extensively reported as the cause of Leber congenital amaurosis-type 9 (LCA9). However, there are no reports of NMNAT1 mutations causing neurological disorders by disrupting the maintenance of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Leber Congenital Amaurosis
Share to Mutation
Share to NAD

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Spastic Paraplegia, Hereditary

Source

Identifiers

PMID: 36871412
DOI: 10.1016/j.nmd.2023.02.001

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants.PMID 36871412Read ↗

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.Semantic proximity Read ↗

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.Semantic proximity Read ↗

A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing.Semantic proximity Read ↗

NMNAT1 mutations cause Leber congenital amaurosis.Semantic proximity Read ↗

New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform.Semantic proximity Read ↗

NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype.Semantic proximity Read ↗

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.Semantic proximity Read ↗

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.Semantic proximity Read ↗

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.Semantic proximity Read ↗

Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.Semantic proximity Read ↗

Programmed axon degeneration gene variants in human disease.Semantic proximity Read ↗

Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.