Article
The p.Ala1035Val variant in Niemann-Pick type C1: Clinical and molecular characterization in Brazilian and Portuguese patients suggests a shared founder effect.
Molecular genetics and metabolism - 1 Jun 2026
Alegretti Ana Paula, Hammerschmidt Tatiane, Ribeiro Isaura, Quelhas Dulce, Polese-Bonatto Márcia, Saraiva-Pereira Maria Luiza, Martins Esmeralda, Giugliani Roberto, Encarnação Marisa, Alves Sandra, Vargas Carmen Regla
Abstract excerpt
INTRODUCTION: Niemann-Pick disease type C1 (NPC1, OMIM 257220) is a rare, progressive, and fatal autosomal recessive lysosomal storage disorder caused by pathogenic variants in the NPC1 gene. These variants disrupt intracellular lipid trafficking, leading to the accumulation of cholesterol and glycosphingolipids and resulting in severe, multisystem dysfunction for which no cure currently exists. MATERIALS AND...
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