Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10)

Acta Neuropathologica

Volumn 117, Issue 2, 2009, Pages 201-208

  Fritchie, Karen ^a   Siintola, Eija ^b   Armao, Diane ^a   Lehesjoki, Anna Elina ^b   Marino, Thomas ^a   Powell, Cynthia ^a   Tennison, Michael ^a   Booker, Jessica M ^a   Koch, Sabine ^b   Partanen, Sanna ^b   Suzuki, Kinuko ^a   Tyynelä, Jaana ^b   Thorne, Leigh B ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Cathepsin D; Lysosomal storage disease; Molecular biology; Neuronal ceroid lipofuscinosis

Indexed keywords

CATHEPSIN D; CYTOSINE; SPHINGOLIPID ACTIVATOR PROTEIN; THYMINE;

ADULT; ARTICLE; AUTOPSY; CASE REPORT; CATHEPSIN D DEFICIENCY; CEREBELLUM HYPOPLASIA; CHILD DEATH; CHORION VILLUS SAMPLING; CONTROLLED STUDY; EXON; FEMALE; FIBROBLAST; GENE MUTATION; GENETIC ASSOCIATION; GESTATIONAL AGE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MICROCEPHALY; MUSCLE HYPERTONIA; MUTATIONAL ANALYSIS; NEURONAL CEROID LIPOFUSCINOSIS; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRENATAL SCREENING; PRIORITY JOURNAL; PROTEIN STABILITY; SIBLING; WESTERN BLOTTING;

ADULT; ASTROCYTES; BRAIN; BRAIN CHEMISTRY; CATHEPSIN D; CELL DEATH; CHORIONIC VILLI SAMPLING; FEMALE; FIBROBLASTS; GLIOSIS; HUMANS; INFANT, NEWBORN; MACROPHAGES; MICROCEPHALY; MUSCLE HYPERTONIA; NEURONAL CEROID-LIPOFUSCINOSES; NEURONS; POINT MUTATION; PREGNANCY; SPHINGOLIPID ACTIVATOR PROTEINS;

EID: 59249093607     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-008-0426-7     Document Type: Article

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