Associated Papers
MK4 Repositioning for IAHSP: Overcoming In Vivo Data Gaps through In Silico Refinement and In Vitro Validation.
Rossi Sebastiano M et al.
Acs Chemical Neuroscience, 2026
Hereditary spastic paraplegia: from decades of therapy to future innovations.
Cipriano L et al.
Therapeutic Advances in Neurological Disorders, 2026
Infantile-Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24-25 Deletion: Expanding the Genotypic Spectrum.
Colona VL et al.
American Journal of Medical Genetics. Part A, 2025
Molecular Insights into IAHSP: Influence of the R1611W Mutation on the VPS9 Domain of Alsin.
Miceli M et al.
Acs Omega, 2025
Preclinical alternative drug discovery programs for monogenic rare diseases. Should small molecules or gene therapy be used? The case of hereditary spastic paraplegias.
Sebastiano MR et al.
Drug Discovery Today, 2024
Clinical and molecular spectrum of a large Egyptian cohort with ALS2-related disorders of infantile-onset of clinical continuum IAHSP/JPLS.
Zaki MS et al.
Clinical Genetics, 2023
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Ruf WP et al.
Brain Communications, 2023
37223130 (PubMed )
Supplement: fcad152_supplementary_data.pdf
Personalized Treatment for Infantile Ascending Hereditary Spastic Paralysis Based on In Silico Strategies.
Rossi Sebastiano M et al.
Molecules (basel, Switzerland), 2022
AI-based protein structure databases have the potential to accelerate rare diseases research: AlphaFoldDB and the case of IAHSP/Alsin.
Rossi Sebastiano M et al.
Drug Discovery Today, 2022
2-Year-Old and 3-Year-Old Italian ALS Patients with Novel ALS2 Mutations: Identification of Key Metabolites in Their Serum and Plasma.
Gautam M et al.
Metabolites, 2022
ALS2-Related Motor Neuron Diseases: From Symptoms to Molecules.
Miceli M et al.
Biology, 2022
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.
Sato K et al.
The Journal of Biological Chemistry, 2018
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