SORT1 Mutation Resulting in Sortilin Deficiency and p75NTR Upregulation in a Family With Essential Tremor

ASN Neuro

Volumn 7, Issue 4, 2015, Pages

  Sánchez, Elena ^a   Bergareche, Alberto ^b,c,d   Krebs, Catharine E ^a   Gorostidi, Ana ^b,c,d   Makarov, Vladimir ^e   Ruiz Martinez, Javier ^b,c,d   Chorny, Alejo ^a   de Munain, Adolfo Lopez ^b,c,d   Marti Masso, Jose Felix ^b,c,d   Paisán Ruiz, Coro ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^c HOSPITAL DONOSTIA   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^e MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

p75NTR upregulation; SORT1 mutation; sortilin downregulation; tremor

Indexed keywords

MESSENGER RNA; NERVE GROWTH FACTOR RECEPTOR; NERVE PROTEIN; NGFR PROTEIN, HUMAN; SORTILIN; VESICULAR TRANSPORT ADAPTOR PROTEIN;

ADULT; AGED; APOPTOSIS; COHORT ANALYSIS; DNA MUTATIONAL ANALYSIS; ENZYME LINKED IMMUNOSORBENT ASSAY; ESSENTIAL TREMOR; FAMILY HEALTH; FEMALE; FLOW CYTOMETRY; GENETIC TRANSFECTION; GENETICS; HEK293 CELL LINE; HUMAN; MALE; METABOLISM; MIDDLE AGED; MUTATION; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; PATHOPHYSIOLOGY; QUESTIONNAIRE; UPREGULATION; VERY ELDERLY;

ADAPTOR PROTEINS, VESICULAR TRANSPORT; ADULT; AGED; AGED, 80 AND OVER; APOPTOSIS; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; ENZYME-LINKED IMMUNOSORBENT ASSAY; ESSENTIAL TREMOR; FAMILY HEALTH; FEMALE; FLOW CYTOMETRY; HEK293 CELLS; HUMANS; MALE; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TESTS; RECEPTORS, NERVE GROWTH FACTOR; RNA, MESSENGER; SURVEYS AND QUESTIONNAIRES; TRANSFECTION; UP-REGULATION;

EID: 84959210834     PISSN: None     EISSN: 17590914     Source Type: Journal    
DOI: 10.1177/1759091415598290     Document Type: Article

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