PMC:6610326 / 98705-99528 JSONTXT

{"project":"2_test","denotations":[{"id":"31316328-28069311-38515933","span":{"begin":225,"end":229},"obj":"28069311"},{"id":"31316328-7849698-38515934","span":{"begin":312,"end":316},"obj":"7849698"},{"id":"31316328-22801503-38515935","span":{"begin":379,"end":383},"obj":"22801503"},{"id":"31316328-23312802-38515936","span":{"begin":400,"end":404},"obj":"23312802"},{"id":"31316328-12627231-38515938","span":{"begin":537,"end":541},"obj":"12627231"},{"id":"31316328-15326253-38515939","span":{"begin":557,"end":561},"obj":"15326253"},{"id":"31316328-16240349-38515940","span":{"begin":577,"end":581},"obj":"16240349"},{"id":"31316328-28792508-38515941","span":{"begin":595,"end":599},"obj":"28792508"},{"id":"31316328-27455348-38515942","span":{"begin":701,"end":705},"obj":"27455348"}],"text":"The existence of mutations in genes encoding cytoskeletal proteins or the cellular transport machinery highlights the involvement of these processes in ALS/FTD. These include tubulin α4A (Smith et al., 2014a; Perrone et al., 2017), a major component of microtubules, neurofilament heavy chain (Figlewicz et al., 1994), a type of intermediate filament, and profilin-1 (Wu et al., 2012; Dillen et al., 2013; Smith et al., 2014b), which is involved in actin polymerization. Similarly, dynactin-1, involved in axonal transport (Puls et al., 2003; Münch et al., 2004; Münch et al., 2005; Liu et al., 2017) and SCFD1 (Sec1 family domain containing 1), involved in ER to Golgi transport (van Rheenen et al., 2016), are also mutated in a small proportion of patients, further implying that protein transport is impaired in ALS/FTD."}

{"project":"0_colil","denotations":[{"id":"31316328-28069311-631390","span":{"begin":225,"end":229},"obj":"28069311"},{"id":"31316328-7849698-631391","span":{"begin":312,"end":316},"obj":"7849698"},{"id":"31316328-22801503-631392","span":{"begin":379,"end":383},"obj":"22801503"},{"id":"31316328-23312802-631393","span":{"begin":400,"end":404},"obj":"23312802"},{"id":"31316328-12627231-631395","span":{"begin":537,"end":541},"obj":"12627231"},{"id":"31316328-15326253-631396","span":{"begin":557,"end":561},"obj":"15326253"},{"id":"31316328-16240349-631397","span":{"begin":577,"end":581},"obj":"16240349"},{"id":"31316328-28792508-631398","span":{"begin":595,"end":599},"obj":"28792508"},{"id":"31316328-27455348-631399","span":{"begin":701,"end":705},"obj":"27455348"}],"text":"The existence of mutations in genes encoding cytoskeletal proteins or the cellular transport machinery highlights the involvement of these processes in ALS/FTD. These include tubulin α4A (Smith et al., 2014a; Perrone et al., 2017), a major component of microtubules, neurofilament heavy chain (Figlewicz et al., 1994), a type of intermediate filament, and profilin-1 (Wu et al., 2012; Dillen et al., 2013; Smith et al., 2014b), which is involved in actin polymerization. Similarly, dynactin-1, involved in axonal transport (Puls et al., 2003; Münch et al., 2004; Münch et al., 2005; Liu et al., 2017) and SCFD1 (Sec1 family domain containing 1), involved in ER to Golgi transport (van Rheenen et al., 2016), are also mutated in a small proportion of patients, further implying that protein transport is impaired in ALS/FTD."}