@article{fc8dbf46a8194c598ef8d099a6eff245,
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",
}