@dpavot:26715604 JSONTXT

{"project":"PGR-FAL","denotations":[{"id":"T1","span":{"begin":478,"end":484},"obj":"9895"},{"id":"T2","span":{"begin":320,"end":337},"obj":"HP:0001251"},{"id":"T3","span":{"begin":283,"end":288},"obj":"57231"},{"id":"T4","span":{"begin":342,"end":365},"obj":"HP:0001249"}],"relations":[{"id":"R1","pred":"false","subj":"T1","obj":"T2"},{"id":"R2","pred":"unknown","subj":"T3","obj":"T4"}],"text":"Here we discuss 'congenital disorders of autophagy' as an emerging subclass of inborn errors of metabolism by using the examples of six recently identified monogenic diseases: EPG5-related Vici syndrome, beta-propeller protein-associated neurodegeneration due to mutations in WDR45, SNX14-associated autosomal-recessive cerebellar ataxia and intellectual disability syndrome, and three forms of hereditary spastic paraplegia, SPG11, SPG15 and SPG49 caused by SPG11, ZFYVE26 and TECPR2 mutations, respectively."}

{"project":"PGR-UNK","denotations":[{"id":"T1","span":{"begin":478,"end":484},"obj":"9895"},{"id":"T2","span":{"begin":320,"end":337},"obj":"HP:0001251"},{"id":"T3","span":{"begin":283,"end":288},"obj":"57231"},{"id":"T4","span":{"begin":342,"end":365},"obj":"HP:0001251"}],"relations":[{"id":"R1","pred":"unknown","subj":"T3","obj":"T4"},{"id":"R2","pred":"false","subj":"T2","obj":"T1"}],"text":"Here we discuss 'congenital disorders of autophagy' as an emerging subclass of inborn errors of metabolism by using the examples of six recently identified monogenic diseases: EPG5-related Vici syndrome, beta-propeller protein-associated neurodegeneration due to mutations in WDR45, SNX14-associated autosomal-recessive cerebellar ataxia and intellectual disability syndrome, and three forms of hereditary spastic paraplegia, SPG11, SPG15 and SPG49 caused by SPG11, ZFYVE26 and TECPR2 mutations, respectively."}