Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology

Human Mutation

Volumn 35, Issue 4, 2014, Pages 497-504

  Falk, Julia ^a   Rohde, Magdalena ^a   Bekhite, Mohamed M ^a,b   Neugebauer, Sophie ^a   Hemmerich, Peter ^c   Kiehntopf, Michael ^a   Deufel, Thomas ^a   Hübner, Christian A ^a   Beetz, Christian ^a  

^a JENA UNIVERSITY HOSPITAL   (Germany)

^b Tanta University   (Egypt)

^c FRITZ LIPMANN INSTITUTE   (Germany)

Author keywords

Hereditary motor neuropathy; Hereditary spastic paraplegia; Lipid droplets; REEP1

Indexed keywords

FAT DROPLET; MESSENGER RNA; MITOCHONDRIAL PROTEIN; PROTEIN; PROTEIN REEP1; SEIPIN; UNCLASSIFIED DRUG; CARRIER PROTEIN;

AMINO ACID SEQUENCE; AMINO TERMINAL SEQUENCE; ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENE; GENE DELETION; GENE EXPRESSION; GENE FUNCTION; GENETIC ASSOCIATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; LIPID STORAGE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; REEP1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; ANIMAL; GENETIC VARIABILITY; GENETICS; HELA CELL LINE; METABOLISM; MOUSE; MUTATION; SPINAL MUSCULAR ATROPHY; TUMOR CELL LINE;

ANIMALS; CELL LINE, TUMOR; DNA MUTATIONAL ANALYSIS; ENDOPLASMIC RETICULUM; GENETIC VARIATION; HELA CELLS; HUMANS; LIPID DROPLETS; MEMBRANE TRANSPORT PROTEINS; MICE; MUSCULAR ATROPHY, SPINAL; MUTATION; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84896113149     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22521     Document Type: Article

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