A novel mutation in the gene causing hereditary spastic paraplegia: a case report and overview of the genotype-phenotype correlation

HIGHLIGHTS

• who: UBAP and collaborators from the University of Padua, Italy have published the research: A novel mutation in the gene causing hereditary spastic paraplegia: A case report and overview of the genotype-phenotype correlation, in the Journal: (JOURNAL) of 31/03/2022
• what: The proband in the study had severe urinary incontinence, whereas other patients in the family did not exhibit the similar symptom.

SUMMARY

Ubiquitin-associated protein 1(UBAP1) acts as the subunit of the endosomal sorting complex required for transport (ESCRT) -I to bind the ubiquitin-conjugated membrane_proteins into . . .

 



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