title: Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.
authors.forename: S
authors.initials: S
authors.lastname: Shackleton
authors.forename: D T
authors.initials: DT
authors.lastname: Smallwood
authors.forename: P
authors.initials: P
authors.lastname: Clayton
authors.forename: L C
authors.initials: LC
authors.lastname: Wilson
authors.forename: A K
authors.initials: AK
authors.lastname: Agarwal
authors.forename: A
authors.initials: A
authors.lastname: Garg
authors.forename: R C
authors.initials: RC
authors.lastname: Trembath
mesh_terms: D002467:Cell Nucleus / Q000648:ultrastructure; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D034904:Lamin Type A; D008074:Lipoproteins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D008666:Metalloendopeptidases; D045726:Metalloproteases / Q000235:genetics*; D009687:Nuclear Proteins / Q000378:metabolism*; D010641:Phenotype; D011371:Progeria / Q000175:diagnosis* / Q000235:genetics* / Q000648:ultrastructure; D011498:Protein Precursors / Q000378:metabolism*
chemical_list: D034904:Lamin Type A; D008074:Lipoproteins; D008565:Membrane Proteins; D009687:Nuclear Proteins; D011498:Protein Precursors; C090764:prelamin A; D045726:Metalloproteases; D008666:Metalloendopeptidases; C120130:ZMPSTE24 protein, human