Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration

Journal of Medical Genetics

Volumn 53, Issue 3, 2016, Pages 180-189

  Davids, Mariska ^a,b   Kane, Megan S ^a,b   He, Miao ^c,d   Wolfe, Lynne A ^a,b   Li, Xueli ^c,d   Raihan, Mohd A ^c,d   Chao, Katherine R ^a,b   Bone, William P ^a,b   Boerkoel, Cornelius F ^a,b   Gahl, William A ^a,b   Toro, Camilo ^a,b  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF PENNSYLVANIA   (United States)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM INDEPENDENT PHOSPHOLIPASE A2; COMPLEMENTARY DNA; ENDOPLASMIC RETICULUM GOLGI INTERMEDIATE COMPARTMENT PROTEIN 53; LECTIN; LENTIVIRUS VECTOR; OLIGOSACCHARIDE; PHOSPHOLIPASE A2 GROUP VI; PLA2G6 PROTEIN, HUMAN; SIALYLTRANSFERASE;

ADULT; ADULT ONSET DYSTONIA PARKINSONISM; ARTICLE; CASE REPORT; CELL CULTURE; CELL STRUCTURE; CHILD; EXON; FEMALE; GENE MUTATION; GENE OVEREXPRESSION; GOLGI COMPLEX; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOFLUORESCENCE TEST; INFANT; MALE; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; NERVE DEGENERATION; NEUROAXONAL DYSTROPHY; PARKINSONISM; PATHOLOGY; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; SANGER SEQUENCING; SEQUENCE ANALYSIS; SIALYLATION; SKIN FIBROBLAST; WILD TYPE; DEFICIENCY; DEGENERATIVE DISEASE; DYSTONIC DISORDER; FIBROBLAST; GENETICS; GLYCOSYLATION; METABOLISM; MUTATION; ULTRASTRUCTURE;

ADULT; CELLS, CULTURED; DYSTONIC DISORDERS; FEMALE; FIBROBLASTS; GLYCOSYLATION; GOLGI APPARATUS; GROUP VI PHOSPHOLIPASES A2; HUMANS; INFANT; MALE; MUTATION; NEUROAXONAL DYSTROPHIES; NEURODEGENERATIVE DISEASES; PARKINSONIAN DISORDERS; SIALYLTRANSFERASES;

EID: 84960111965     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103338     Document Type: Article

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