Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

American Journal of Human Genetics

Volumn 99, Issue 3, 2016, Pages 683-694

  Muona, Mikko ^a,b,q   Ishimura, Ryosuke ^c,d   Laari, Anni ^a,b   Ichimura, Yoshinobu ^c   Linnankivi, Tarja ^e   Keski Filppula, Riikka ^f,g   Herva, Riitta ^g   Rantala, Heikki ^f,g   Paetau, Anders ^h   Pöyhönen, Minna ^h   Obata, Miki ^c   Uemura, Takefumi ⁱ   Karhu, Thomas ^a,b   Bizen, Norihisa ^c   Takebayashi, Hirohide ^c   McKee, Shane ^j   Parker, Michael J ^k   Akawi, Nadia ^l   McRae, Jeremy ^l   Hurles, Matthew E ^l   Kuismin, Outi ^f,g   Kurki, Mitja I ^a,m,n,o   Anttonen, Anna Kaisa ^a,b,h   Tanaka, Keiji ^d   Palotie, Aarno ^a,l,n,o,p   Waguri, Satoshi ⁱ   Lehesjoki, Anna Elina ^a,b   Komatsu, Masaaki ^c   more..

^a UNIVERSITY OF HELSINKI   (Finland)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^d TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^e UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^f UNIVERSITY OF OULU   (Finland)

^g OULU UNIVERSITY HOSPITAL   (Finland)

^h HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

ⁱ FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^j BELFAST CITY HOSPITAL   (United Kingdom)

^k SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^l WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^m KUOPIO UNIVERSITY HOSPITAL   (Finland)

ⁿ MASSACHUSETTS GENERAL HOSPITAL   (United States)

^o MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^p HARVARD MEDICAL SCHOOL   (United States)

^q Blueprint Genetics   (Finland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; CELL PROTEIN; HISTIDINE; THREONINE; UBA5 PROTEIN; UBIQUITIN FOLD MODIFIER 1; UNCLASSIFIED DRUG; PROTEIN; UBA5 PROTEIN, HUMAN; UBIQUITIN; UBIQUITIN PROTEIN LIGASE; UFM1 PROTEIN, HUMAN;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EPILEPSY; EUROPEAN; EXON SKIPPING; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; INFANCY; INFANT DISEASE; IRRITABILITY; MICROCEPHALY; MISSENSE MUTATION; NONSENSE MUTATION; PATHOGENESIS; PERINATAL PERIOD; PRIORITY JOURNAL; RNA SPLICING; SPASTICITY; ANIMAL; APOPTOSIS; CENTRAL NERVOUS SYSTEM; COHORT ANALYSIS; EXOME; EXON; FIBROBLAST; FINLAND; GENETICS; HETEROZYGOTE; INFANT; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; KNOCKOUT MOUSE; METABOLISM; MOUSE; MUTATION; NERVE CELL; NEWBORN; PATHOLOGY;

ALLELES; ANIMALS; ANIMALS, NEWBORN; APOPTOSIS; BRAIN DISEASES; CENTRAL NERVOUS SYSTEM; COHORT STUDIES; EPILEPSY; EXOME; EXONS; FIBROBLASTS; FINLAND; GENE FREQUENCY; HETEROZYGOTE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MICE; MICE, KNOCKOUT; MICROCEPHALY; MUTATION; NEURONS; PROTEINS; SPASMS, INFANTILE; UBIQUITIN; UBIQUITIN-ACTIVATING ENZYMES;

EID: 84996848384     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.06.020     Document Type: Article

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