Associated Papers
Propeptide engineering of Aspergillus niger-derived aspartic protease PepA for enhanced catalytic activity.
Zhang A et al.
International Journal of Biological Macromolecules, 2026
Unravelling the Relacatib activity against the CTSK proteins causing pycnodysostosis: a molecular docking and dynamics approach.
Kannan P et al.
Journal of Biomolecular Structure & Dynamics, 2024
A First-Case Report of Pycnodysostosis in an Omani Boy.
Al-Araimi M et al.
Journal of Pediatric Genetics, 2022
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
Mushiba AM et al.
American Journal of Medical Genetics. Part A, 2021
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
Bizaoui V et al.
Clinical Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Not all pycnodysostosis-related mutants of human cathepsin K are inactive - crystal structure and biochemical studies of an active mutant I249T.
Roy S et al.
The Febs Journal, 2018
Inherited diseases caused by mutations in cathepsin protease genes.
Ketterer S et al.
The Febs Journal, 2017
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
Araujo TF et al.
European Journal of Medical Research, 2016
Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.
Xue Y et al.
Journal of Dental Research, 2015
Current research on pycnodysostosis.
Turan S
Intractable & Rare Diseases Research, 2014
Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.
Xue Y et al.
Orphanet Journal of Rare Diseases, 2011
High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.
Schilling AF et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2007
Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.
Donnarumma M et al.
Human Mutation, 2007
Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis.
Fratzl-Zelman N et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
[Pycnodysostosis--common ancestor of some Danish patients. Examination and diagnosis based on molecular genetics].
Haagerup A et al.
Ugeskrift for Laeger, 2002
Cathepsin K gene mutations and 1q21 haplotypes in at patients with pycnodysostosis in an outbred population.
Haagerup A et al.
European Journal of Human Genetics : Ejhg, 2000
Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein.
Ho N et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 1999
Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.
Hou WS et al.
The Journal of Clinical Investigation, 1999