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

MK4 Repositioning for IAHSP: Overcoming In Vivo Data Gaps through In Silico Refinement and In Vitro Validation.

ACS chemical neuroscience - 18 Mar 2026

Rossi Sebastiano Matteo, Vicidomini Antonio, Francisco Serena, Pullano Verdiana, Defilippi Paola, Baj Gabriele, Cesca Fabrizia, Caron Giulia, Ermondi Giuseppe

Abstract excerpt

Infantile-onset Ascending Hereditary Spastic Paralysis (IAHSP) is an ultrarare, autosomal recessive form of Hereditary Spastic Paraplegia (HSP), caused by mutations in the ALS2 gene, which encodes the protein ALSIN. In a previous study, we proposed a personalized therapeutic strategy for an Italian IAHSP patient (AO), aiming to correct the aberrant function of the R1611W mutant ALSIN using Menatetrenone (MK4)....

Read the complete abstract on PubMed

Topics

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

Share to Computer Simulation
Share to Fibroblasts

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondria

Share to Molecular Dynamics Simulation

Share to Mutation

Share to Oxidative Stress

Share to Spastic Paraplegia, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 41657105
DOI: 10.1021/acschemneuro.5c00601
PMCID: PMC13003441

Genes

ALS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MK4 Repositioning for IAHSP: Overcoming In Vivo Data Gaps through In Silico Refinement and In Vitro Validation.PMID 41657105Read ↗

Personalized Treatment for Infantile Ascending Hereditary Spastic Paralysis Based on In Silico Strategies.Semantic proximity Read ↗

Preclinical alternative drug discovery programs for monogenic rare diseases. Should small molecules or gene therapy be used? The case of hereditary spastic paraplegiasSemantic proximity Read ↗

Single cell morphology distinguishes genotype and drug effect in Hereditary Spastic Paraplegia.Semantic proximity Read ↗

High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic ParaplegiaSemantic proximity Read ↗

Investigating the impact of SOD1 mutations on amyotrophic lateral sclerosis progression and potential drug repurposing through in silico analysis.Semantic proximity Read ↗

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.Semantic proximity Read ↗

High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia.Semantic proximity Read ↗

Exploring novel natural compound-based therapies for Duchenne muscular dystrophy management: insights from network pharmacology, QSAR modeling, molecular dynamics, and free energy calculationsSemantic proximity Read ↗

An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia.Semantic proximity Read ↗

Clinical and molecular characterization of a novel pathogenic AIFM1 E336K mutation connecting mitochondrial dysfunction and neurodegeneration.Semantic proximity Read ↗

A Human‐Based Functional NMJ System for Personalized ALS Modeling and Drug TestingSemantic proximity Read ↗

A major disease-related point mutation in spastin alters dramatically the dynamics and allostery of the motorSemantic proximity Read ↗

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