Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts

Molecular and Cellular Neuroscience

Volumn 56, Issue , 2013, Pages 307-321

  Petrini, Stefania ^a   Minnone, Gaetana ^a   Coccetti, Marianna ^a   Frank, Claudio ^b   Aiello, Chiara ^a   Cutarelli, Alessandro ^b   Ambrosini, Elena ^b   Lanciotti, Angela ^b   Brignone, Maria Stefania ^b   D'Oria, Valentina ^a   Strippoli, Raffaele ^a,c   De Benedetti, Fabrizio ^a   Bertini, Enrico ^a   Bracci Laudiero, Luisa ^a,d  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^c CENTRO NACIONAL DE INVESTIGACIONES CARDIOVASCULARES CNIC   (Spain)

^d INSTITUTE OF TRANSLATIONAL PHARMACOLOGY   (Italy)

Author keywords

Aquaporin 3; Calcium channel; Ion homeostasis; Megalencephalic leukoencephalopathy with subcortical cysts; MLC1; Volume regulation

Indexed keywords

BIOLOGICAL MARKER; RAB PROTEIN; RAB11 PROTEIN;

ARTICLE; BIOSYNTHESIS; CALCIUM CELL LEVEL; CELL MEMBRANE PERMEABILITY; CELL SURFACE; CLINICAL ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; HUMAN; HUMAN CELL; HYPOOSMOTIC STRESS; IMMUNOFLUORESCENCE; LEUKOENCEPHALOPATHY; MACROPHAGE; MACROPHAGE FUNCTION; MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYST; MISSENSE MUTATION; MLC1 GENE; MONOCYTE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN LOCALIZATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SECRETORY PATHWAY; TRANS GOLGI NETWORK; WESTERN BLOTTING;

AQP3; AQUAPORIN-3; CALCIUM CHANNEL; INWARDLY RECTIFYING K+ CHANNEL 2.1; ION HOMEOSTASIS; KIR2.1; LAMP2; LIPOPOLYSACCHARIDE; LPS; LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2; M/M; MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS; MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS PROTEIN-1; MLC; MLC1; MONOCYTE-DERIVED MACROPHAGES; NA,K-ATPASE PUMP Β1 SUBUNIT; NAKΒ1; PDI; PROTEIN DISULPHIDE-ISOMERASE; STX17; SYNTAXIN 17; VESICULAR SOLUBLE N-ETHYLMALEIMIDE-SENSITIVE FUSION PROTEIN-ATTACHMENT PROTEIN RECEPTOR VTI1A; VOLUME REGULATION; VSNAREVTI1A;

ADOLESCENT; ADULT; BIOLOGICAL MARKERS; CASE-CONTROL STUDIES; CELL MEMBRANE; CHILD; CYSTS; ENDOPLASMIC RETICULUM; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MACROPHAGES; MEMBRANE PROTEINS; MIDDLE AGED; MONOCYTES; MUTATION; PROTEIN TRANSPORT; SECRETORY PATHWAY; TRANS-GOLGI NETWORK;

EID: 84881239605     PISSN: 10447431     EISSN: 10959327     Source Type: Journal    
DOI: 10.1016/j.mcn.2013.07.001     Document Type: Article

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