Human NR5A1/SF-1 mutations show decreased activity on BDNF (Brain-Derived Neurotrophic Factor), an important regulator of energy balance: Testing impact of novel SF-1 mutations beyond steroidogenesis

PLoS ONE

Volumn 9, Issue 8, 2014, Pages

  Malikova, Jana ^a,b   Camats, Núria ^b   Fernández Cancio, Mónica ^c   Heath, Karen ^d   González, Isabel ^e   Caimarí, María ^f   Campo, Miguel Del ^g   Albisu, Marian ^c   Kolouskova, Stanislava ^a   Audí, Laura ^c   Flück, Christa E ^b  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^d HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^e HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^f HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^g HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR; NR5A1 PROTEIN, HUMAN; STEROID; STEROIDOGENIC FACTOR 1;

BIOSYNTHESIS; ENERGY METABOLISM; FEMALE; GENETICS; HEK293 CELL LINE; HUMAN; MALE; MUTATION; PEDIGREE; PHYSIOLOGY; TUMOR CELL LINE;

BRAIN-DERIVED NEUROTROPHIC FACTOR; CELL LINE, TUMOR; ENERGY METABOLISM; FEMALE; HEK293 CELLS; HUMANS; MALE; MUTATION; PEDIGREE; STEROIDOGENIC FACTOR 1; STEROIDS;

EID: 84905993249     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0104838     Document Type: Article

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