@article{dbfa45fb52984f74a2edaec2d3faca1d,
title = "Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene",
abstract = "Cooper-Knock et al. identify amyotrophic lateral sclerosis (ALS) risk variants within non-coding regulatory DNA linked to a known ALS gene, TBK1, but also CAV1 and CAV2. Disease-associated variants reduce CAV1/CAV2 expression and disrupt membrane lipid rafts with consequences for neurotrophic signaling. CAV1 coding sequence also contains ALS-associated mutations.",
keywords = "CAV1, CAV2, amyotrophic lateral sclerosis, gene enhancers, membrane lipid rafts, non-coding DNA, whole-genome sequencing",
author = "{Project MinE ALS Sequencing Consortium} and Johnathan Cooper-Knock and Sai Zhang and Kenna, {Kevin P.} and Tobias Moll and Franklin, {John P.} and Samantha Allen and Nezhad, {Helia Ghahremani} and Alfredo Iacoangeli and Yacovzada, {Nancy Y.} and Chen Eitan and Eran Hornstein and Eran Ehilak and Petra Celadova and Daniel Bose and Sali Farhan and Simon Fishilevich and Doron Lancet and Morrison, {Karen E.} and Shaw, {Christopher E.} and Ammar Al-Chalabi and Ian Blair and Naomi Wray and Matthew Kiernan and Neto, {Miguel Mitne} and Adriano Chio and Ruben Cauchi and Wim Robberecht and {van Damme}, Philip and Phillippe Corcia and Phillipe Couratier and Orla Hardiman and Russel McLaughlin and Marc Gotkine and Vivan Drory and Nicola Ticozzi and Vincenzo Silani and Jan Veldink and {van den Berg}, Leonard and {de Carvalho}, Mamede and Pardina, {Jesus Mora} and Monica Povedano and Peter Andersen and Markus Wber and Nazli Ba{\c s}ak and Karen Morrison and John Landers and Jonathan Glass and Veldink, {Jan H.} and Janine Kirby and Snyder, {Michael P.}",
note = "Publisher Copyright: {\textcopyright} 2020 The Author(s)",
year = "2020",
month = dec,
day = "1",
doi = "10.1016/j.celrep.2020.108456",
language = "אנגלית",
volume = "33",
journal = "Cell Reports",
issn = "2211-1247",
publisher = "Cell Press",
number = "9",
}