Ubiquitin ligases of the N-END rule pathway: Assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome

PLoS ONE

Volumn 6, Issue 9, 2011, Pages

  Hwang, Cheol Sang ^a,i   Sukalo, Maja ^b   Batygin, Olga ^a   Addor, Marie Claude ^c   Brunner, Han ^d   Aytes, Antonio Perez ^e   Mayerle, Julia ^f   Song, Hyun Kyu ^g   Varshavsky, Alexander ^a   Zenker, Martin ^b,h  

^a CALIFORNIA INSTITUTE OF TECHNOLOGY   (United States)

^b UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e HOSPITAL UNIVERSITARIO LA FE   (Spain)

^f UNIVERSITY MEDICINE GREIFSWALD   (Germany)

^g Korea University   (South Korea)

^h UNIVERSITY HOSPITAL ERLANGEN   (Germany)

ⁱ Pohang University of Science and Technology (POSTECH)   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

UBIQUITIN PROTEIN LIGASE; UBR1 PROTEIN, HUMAN;

ADOLESCENT; ALLELE; AMINO TERMINAL SEQUENCE; ARTICLE; CASE REPORT; CAUSAL ATTRIBUTION; CHILD; CLINICAL FEATURE; CONGENITAL DISORDER; CONTROLLED STUDY; FACE DYSMORPHIA; FEMALE; FRAMESHIFT MUTATION; GENE CONSTRUCT; GENE FUNCTION; GENETIC CONSERVATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; JOHANSON BLIZZARD SYNDROME; MARKER GENE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; NONSENSE MUTATION; NOSE MALFORMATION; PANCREAS EXOCRINE INSUFFICIENCY; PROTEIN DOMAIN; RESIDUE ANALYSIS; RNA SPLICING; SACCHAROMYCES CEREVISIAE; SCHOOL CHILD; UBR1 GENE; CONGENITAL MALFORMATION; ECTODERMAL DYSPLASIA; GENETICS; HEARING IMPAIRMENT; HYPOTHYROIDISM; METABOLISM; MUTATION; NOSE; PANCREAS DISEASE; PHYSIOLOGY; SIGNAL TRANSDUCTION;

EUKARYOTA; SACCHAROMYCES CEREVISIAE;

ADOLESCENT; CHILD; DEAFNESS; ECTODERMAL DYSPLASIA; FEMALE; HUMANS; HYPOTHYROIDISM; MUTATION; MUTATION, MISSENSE; NOSE; PANCREATIC DISEASES; SIGNAL TRANSDUCTION; UBIQUITIN-PROTEIN LIGASES;

EID: 80052697848     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0024925     Document Type: Article

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