A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity. [PDF]
PLoS ONE, 2014 Four siblings presented with congenital diarrhea and various endocrinopathies. Exome sequencing and homozygosity mapping identified five regions, comprising 337 protein-coding genes that were shared by three affected siblings. Exome sequencing identified
Michael Wilschanski +11 more
doaj +9 more sources
Proprotein convertases in high-density lipoprotein metabolism [PDF]
Biomarker Research, 2013 The proprotein convertase subtilisin/kexins (PCSKs) are a serine endopeptidase family. PCSK members cleave amino acid residues and modulate the activity of precursor proteins. Evidence from patients and animal models carrying genetic alterations in PCSK members show that PCSK members are involved in various metabolic processes.
Choi, Seungbum, Korstanje, Ron
openaire +5 more sources
Hepatology, EarlyView., 2022 Hepatic APOF transcript levels correlate inversely with plasma TG and hepatic steatosis in humans. ApoF expression in mice promotes VLDL‐TG production and lipoprotein remnant clearance in mice. Abstract Background NAFLD affects nearly 25% of the global population. Cardiovascular disease (CVD) is the most common cause of death among patients with NAFLD,
Audrey Deprince +30 more
wiley +1 more source
Furin Regulates the Alveolarization of Neonatal Lungs in a Mouse Model of Hyperoxic Lung Injury
Biomolecules, 2023 Despite advances in treatment options, such as corticosteroid administration and less invasive respiratory support, bronchopulmonary dysplasia (BPD) remains an important prognostic factor in preterm infants.
Shin Kato +5 more
doaj +1 more source
Diversity in Proprotein Convertase Reactivity among Human Papillomavirus Types
Viruses, 2023 The cleavage of viral surface proteins by furin is associated with some viruses’ high virulence and infectivity. The human papillomavirus (HPV) requires the proteolytic processing of its capsid proteins for activation before entry.
Gonzalo Izaguirre +5 more
doaj +1 more source
Unpacking and understanding the impact of proprotein convertase subtilisin/kexin type 9 inhibitors on apolipoprotein B metabolism [PDF]
, 2017 No abstract ...
Packard, Chris J.
core +1 more source
Effect of a novel nutraceutical combination on serum lipoprotein functional profile and circulating PCSK9 [PDF]
, 2017 BACKGROUND: A beneficial effect on cardiovascular risk may be obtained by improving lipid-related serum lipoprotein functions such as high-density lipoproteins (HDLs) cholesterol efflux capacity (CEC) and serum cholesterol loading capacity (CLC) and by ...
Adorni, Maria Pia +7 more
core +3 more sources
Insight into the Evolving Role of PCSK9
Metabolites, 2022 Proprotein convertase subtilisin/kexin type 9 (PCSK9) is the last discovered member of the family of proprotein convertases (PCs), mainly synthetized in hepatic cells.
Mateusz Maligłówka +9 more
doaj +1 more source
Circulating Levels of Proprotein Convertase Subtilisin/Kexin Type 9 and Arterial Stiffness in a Large Population Sample: Data From the Brisighella Heart Study [PDF]
, 2017 Proprotein convertase subtilisin/kexin type 9 (PCSK9) circulating levels are significantly associated with an increased risk of cardiovascular events.
Borghi, Claudio +10 more
core +2 more sources
PCSK1 Mutations and Human Endocrinopathies: From Obesity to Gastrointestinal Disorders. [PDF]
, 2016 Prohormone convertase 1/3, encoded by the PCSK1 gene, is a serine endoprotease that is involved in the processing of a variety of proneuropeptides and prohormones. Humans who are homozygous or compound heterozygous for loss-of-function mutations in PCSK1
core +2 more sources