Associated Papers
Development of a split-toxin CRISPR screening platform to systematically identify regulators of human myoblast fusion.
Zhang H et al.
Nature Communications, 2026
Mutations in VPS18 lead to a neutrophil maturation defect associated with disturbed vesicle homeostasis.
Gao J et al.
Cell Death & Disease, 2026
The use of genistein and ambroxol may be an effective approach in correcting cellular dysfunctions of mucopolysaccharidosis-plus syndrome.
Cyske Z et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2025
Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.
Lipiński P et al.
Biomolecules, 2025
Impaired biogenesis of renin granules in juxtaglomerular cells of Vps33a (D251E) mutant mice.
Wang H et al.
Journal of Cell Science, 2025
Triclabendazole suppresses cellular levels of glycosaminoglycan-A potential therapeutic agent for mucopolysaccharidoses and related diseases.
Terawaki S et al.
Iscience, 2025
Cellular and molecular changes in mucopolysaccharidosis-plus syndrome caused by a homozygous c.599G > C (p.Arg200Pro) variant of the VPS33A gene.
Cyske Z et al.
Journal of Applied Genetics, 2025
Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life.
Zhang W et al.
Italian Journal of Pediatrics, 2025
Mucopolysaccharidosis-Plus Syndrome: Is This a Type of Mucopolysaccharidosis or a Separate Kind of Metabolic Disease?
Cyske Z et al.
International Journal of Molecular Sciences, 2024
Lysosomal Dysfunction: Connecting the Dots in the Landscape of Human Diseases.
Uribe-Carretero E et al.
Biology, 2024
Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS).
Sofronova V et al.
Genes, 2023
Contribution of vesicle trafficking dysregulation to the pathomechanism of mucopolysaccharidosis.
Gaffke L et al.
Biochemical and Biophysical Research Communications, 2023
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.
Pavlova EV et al.
Human Mutation, 2022
Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients.
Lipiński P et al.
International Journal of Molecular Sciences, 2022
Misdiagnosis in mucopolysaccharidoses.
Wiśniewska K et al.
Journal of Applied Genetics, 2022
Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.
Sofronova V et al.
International Journal of Molecular Sciences, 2022
Mucopolysaccharidosis-Plus Syndrome, a Rapidly Progressive Disease: Favorable Impact of a Very Prolonged Steroid Treatment on the Clinical Course in a Child.
Faraguna MC et al.
Genes, 2022
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.
Pezzoli L et al.
Journal of Cardiovascular Development and Disease, 2021
Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.
Sofou K et al.
Embo Molecular Medicine, 2021
Mucopolysaccharidosis-Plus Syndrome.
Vasilev F et al.
International Journal of Molecular Sciences, 2020
The lysosomal disease caused by mutant VPS33A.
Pavlova EV et al.
Human Molecular Genetics, 2019
The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.
Bowman SL et al.
Traffic (copenhagen, Denmark), 2019
CORVET, CHEVI and HOPS - multisubunit tethers of the endo-lysosomal system in health and disease.
van der Beek J et al.
Journal of Cell Science, 2019
Recent trends in mucopolysaccharidosis research.
Kobayashi H
Journal of Human Genetics, 2019
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
Kondo H et al.
Human Molecular Genetics, 2017
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.
Dursun A et al.
Clinical Dysmorphology, 2017