Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.
Shackleton
S
S
Smallwood
D T
DT
Clayton
P
P
Wilson
L C
LC
Agarwal
A K
AK
Garg
A
A
Trembath
R C
RC
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*
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