Condition: GALACTOSIALIDOSIS
rs137854540 in
CTSA gene and
GALACTOSIALIDOSIS
PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
PMID 1756715 1991 A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.
PMID 8514852 1993 Protective protein gene mutations in galactosialidosis.
PMID 24769197 2014 Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
PMID 26259553 2016 Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts.
PMID 16538002 2006 Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.
PMID 24779613 2014 Fundus autofluorescence imaging in a patient with the juvenile form of galactosialidosis.
rs137854542 in
CTSA;NEURL2;SPATA25 gene and
GALACTOSIALIDOSIS
PMID 8514852 1993 Protective protein gene mutations in galactosialidosis.
PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
PMID 1756715 1991 A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.
PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
rs137854541 in
NEURL2;CTSA;SPATA25 gene and
GALACTOSIALIDOSIS
PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
PMID 8514852 1993 Protective protein gene mutations in galactosialidosis.
PMID 1756715 1991 A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.
PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
rs28934603 in
SPATA25;NEURL2;CTSA gene and
GALACTOSIALIDOSIS
PMID 10944848 2000 Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
PMID 8514852 1993 Protective protein gene mutations in galactosialidosis.
PMID 8968752 1996 Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
PMID 1756715 1991 A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.