Associated Papers
Unsupervised learning reveals landscape of local structural motifs across protein classes.
Derry A et al.
Bioinformatics (oxford, England), 2025
40569048 (PubMed )
Supplement: btaf377_supplementary_data.zip › Supplementary_material_PDF.pdf
A humanized Caenorhabditis elegans model for studying pathogenic mutations in VPS45, a protein essential for membrane trafficking, associated with severe congenital neutropenia.
Gengyo-Ando K et al.
Micropublication Biology, 2023
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Sanderson LE et al.
Brain : a Journal of Neurology, 2021
33764426 (PubMed )
Supplement: awaa459_supplementary_data.zip › brain-2020-00832-File005.pdf
Mammalian VPS45 orchestrates trafficking through the endosomal system.
Frey L et al.
Blood, 2021
A rare form of congenital neutropenia: VPS45 deficiency.
Karaatmaca B et al.
Scandinavian Journal of Immunology, 2020
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
32373116 (PubMed )
Supplement: Table_2.xlsx › Table_E2_Previously_undiagnosed
How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45.
Shadur B et al.
Pediatric Blood & Cancer, 2019
A novel homozygous VPS45 p.P468L mutation leading to severe congenital neutropenia with myelofibrosis.
Shah RK et al.
Pediatric Blood & Cancer, 2017
Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.
Meerschaut I et al.
American Journal of Medical Genetics. Part A, 2015
A congenital neutrophil defect syndrome associated with mutations in VPS45.
Vilboux T et al.
The New England Journal of Medicine, 2013
Periodontal Disease in Two Siblings with VPS45-associated Severe Congenital Neutropenia Type V: A Case Report.
Alotaibi FA et al.
International Journal of Clinical Pediatric Dentistry, 0
Select a paper to view details