A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.
about
Revisiting PC1/3 Mutants: Dominant-Negative Effect of Endoplasmic Reticulum-Retained Mutants.PCSK1 Variants and Human Obesity.Long-Term Follow-up of a Case with Proprotein Convertase 1/3 Deficiency: Transient Diabetes Mellitus with Intervening Diabetic Ketoacidosis During Growth Hormone Therapy.Endoplasmic reticulum-associated degradation of the mouse PC1/3-N222D hypomorph and human PCSK1 mutations contributes to obesity.
P2860
A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.
description
2014 nî lūn-bûn
@nan
2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A novel familial mutation in t ...... mpairs its enzymatic activity.
@ast
A novel familial mutation in t ...... mpairs its enzymatic activity.
@en
A novel familial mutation in t ...... mpairs its enzymatic activity.
@nl
type
label
A novel familial mutation in t ...... mpairs its enzymatic activity.
@ast
A novel familial mutation in t ...... mpairs its enzymatic activity.
@en
A novel familial mutation in t ...... mpairs its enzymatic activity.
@nl
prefLabel
A novel familial mutation in t ...... mpairs its enzymatic activity.
@ast
A novel familial mutation in t ...... mpairs its enzymatic activity.
@en
A novel familial mutation in t ...... mpairs its enzymatic activity.
@nl
P2093
P2860
P1433
P1476
A novel familial mutation in t ...... impairs its enzymatic activity
@en
P2093
Benjamin Bar-Oz
David Zangen
Elias Blanco
Eyal Shteyer
Iris Lindberg
Martin G Martín
Michael Wilschanski
Montaser Abbasi
Orit Pappo
Orly Elpeleg
P2860
P304
P356
10.1371/JOURNAL.PONE.0108878
P407
P577
2014-10-01T00:00:00Z