Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency

Biochemical and Biophysical Research Communications

Volumn 479, Issue 3, 2016, Pages 496-501

  Acuña, Mariana ^a,b   Castro Fernández, Víctor ^b   Latorre, Mauricio ^b   Castro, Juan ^a   Schuchman, Edward H ^c   Guixé, Victoria ^b   González, Mauricio ^b   Zanlungo, Silvana ^a,b  

^a PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^b UNIVERSITY OF CHILE   (Chile)

^c MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Acid sphingomylienase; Niemann pick disease; p.Ala359Asp; SMPD1 mutations

Indexed keywords

ALANINE; ASPARAGINE; MESSENGER RNA; MUTANT PROTEIN; PROTEIN; SPHINGOMYELIN; SPHINGOMYELIN PHOSPHODIESTERASE; ASPARTIC ACID; SMPD1 PROTEIN, HUMAN;

ARTICLE; BINDING SITE; CONTROLLED STUDY; CRYSTAL STRUCTURE; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME LOCALIZATION; ENZYME RELEASE; ENZYME STABILITY; ENZYME STRUCTURE; HUMAN; HUMAN CELL; HYDROPHOBICITY; MUTANT; NIEMANN PICK DISEASE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SKIN FIBROBLAST; WILD TYPE; CHEMISTRY; CONFORMATION; FIBROBLAST; FLUORESCENCE MICROSCOPY; GENETICS; MACROMOLECULE; METABOLISM; MUTATION; PROTEIN DOMAIN; STATIC ELECTRICITY;

ALANINE; ASPARTIC ACID; CATALYTIC DOMAIN; FIBROBLASTS; HUMANS; MACROMOLECULAR SUBSTANCES; MICROSCOPY, FLUORESCENCE; MOLECULAR CONFORMATION; MUTATION; NIEMANN-PICK DISEASES; PROTEIN DOMAINS; SPHINGOMYELIN PHOSPHODIESTERASE; STATIC ELECTRICITY;

EID: 84989887818     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2016.09.096     Document Type: Article

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