osteochondrodysplasias/protease

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Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.

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Site-1 protease (S1P), encoded by MBTPS1, is a serine protease in the Golgi. S1P regulates lipogenesis, endoplasmic reticulum (ER) function, and lysosome biogenesis in mice and in cultured cells. However, how S1P differentially regulates these diverse functions in humans has been unclear. In

Site-1 protease regulates skeletal stem cell population and osteogenic differentiation in mice.

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Site-1 protease (S1P) is a proprotein convertase with essential functions in the conversion of precursor proteins to their active form. In earlier studies, we demonstrated that S1P ablation in the chondrocyte lineage results in a drastic reduction in endochondral bone formation. To investigate the

Undersulfated chondroitin sulfate in cartilage from a miniature poodle with spondyloepiphyseal dysplasia.

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In order to determine if either the proteoglycans or collagen in the cartilagenous epiphyses of a Miniature Poodle with spondyloepiphyseal dysplasia were abnormal, the cartilage was dissociatively extracted in 4 M guanidine HCl in the presence of protease inhibitors and subjected to isopycnic cesium

Type X collagen biosynthesis and expression in avian tibial dyschondroplasia.

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OBJECTIVE Tibial dyschondroplasia (TD) is an abnormality of growth plate cartilage characterized by the presence of non-vascularized, non-mineralized tissue. The objective of this study was to examine structural and functional alterations of the growth plate-specific type X collagen in TD

A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats.

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Scottish fold cats, named for their unique ear shape, have a dominantly inherited osteochondrodysplasia involving malformation in the distal forelimbs, distal hindlimbs and tail, and progressive joint destruction. This study aimed to identify the gene and the underlying variant responsible for the

PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.

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Exome sequencing of two sisters with congenital cataracts, short stature, and white matter changes identified compound heterozygous variants in the PISD gene, encoding the phosphatidylserine decarboxylase enzyme that converts phosphatidylserine to phosphatidylethanolamine (PE) in the inner

Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.

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Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome (MIM 600373) was first described and named by Shehib et al, in 1991 in a single patient. The anomalies referred to in the acronym are as follows: cerebral-developmental delay, ocular-cataracts, dental-aberrant cusp morphology

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.

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We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373). Here, we delineate a similar but distinct condition that shares the epiphyseal,

Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K).

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BACKGROUND Pycnodysostosis, an autosomal recessive skeletal dysplasia, is characterized by short stature, osteosclerosis, delayed cranial suture closure, hypoplastic mandible, acro-osteolysis, hypoplastic clavicle, and dental anomalies. The disorder is caused by CTSK gene defects, a gene localized

Impact of Arginine to Cysteine Mutations in Collagen II on Protein Secretion and Cell Survival.

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Inherited point mutations in collagen II in humans affecting mainly cartilage are broadly classified as chondrodysplasias. Most mutations occur in the glycine (Gly) of the Gly-X-Y repeats leading to destabilization of the triple helix. Arginine to cysteine substitutions that occur at either the X or

Spondyloepimetaphyseal Dysplasia With Elevated Plasma Lysosomal Enzymes Caused by Homozygous Variant in MBTPS1

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Variants in MBTPS1 (membrane-bound transcription factor peptidase, site 1) encoding the protein convertase site-1 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal enzymes. Here, we report the second individual with this newly

A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin.

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BACKGROUND Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, osteosclerosis, acro-osteolysis, frequent fractures and skull deformities. Mutations in the gene encoding cathepsin K (CTSK), a lysosomal cysteine protease, have been found to be responsible

Structure and chromosomal assignment of the human cathepsin K gene.

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Cathepsin K is a recently identified lysosomal cysteine proteinase that is the major protease responsible for bone resorption and remodeling. Mutations in this gene cause the sclerosing osteochondrodysplasia pycnodysostosis. To assess its evolutionary relatedness to other cysteine proteases and to

Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis.

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Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by osteosclerosis, short stature, acro-osteolysis of the distal phalanges, bone fragility and skull deformities. Mutations in the cathepsin K (CTSK) gene, which encodes a lysosomal cysteine protease highly expressed in

A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.

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Pycnodysostosis (MIM 265800) is a rare, autosomal recessive skeletal dysplasia characterized by short stature, wide cranial sutures, and increased bone density and fragility. Linkage analysis localized the disease gene to human chromosome 1q21, and subsequently the genetic interval was narrowed to

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