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Arylsulfatase E

Chondrodysplasia Punctata
Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, PI3K, AGE, CAN, ACID
Papers on Chondrodysplasia Punctata
Effect of Intrathecal Baclofen on Delayed-Onset Paroxysmal Dystonia due to Compression Injury Resulting From Congenital and Progressive Spinal Bone Deformities in Chondrodysplasia Punctata.
Maegaki et al., Yonago, Japan. In Pediatr Neurol, Jan 2016
PATIENT DESCRIPTION: An infant with brachytelephalangic chondrodysplasia punctata developed flaccid tetraplegia due to cervical cord compression resulting from congenital atlantoaxial dislocation.
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Offiah et al., Bron, France. In Pediatr Radiol, Jul 2015
Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia punctata, X-linked recessive male emopamil-binding protein deficiency, CHILD syndrome, CK syndrome, sterol C4 methyloxidase-like deficiency, desmosterolosis and lathosterolosis.
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.
Braverman et al., Diyarbakır, Turkey. In J Clin Res Pediatr Endocrinol, Mar 2015
Rhizomelic chondrodysplasia punctata (RCDP) type 1 is one of the peroxisomal biogenesis disorders caused by mutations in the PEX7 gene and is inherited in an autosomal recessive manner.
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.
Lehnert et al., Auckland, New Zealand. In Case Rep Genet, 2014
Mutations in this gene cause rhizomelic chondrodysplasia punctata, type 1 (RCDP1).
Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review.
Fukuiya et al., Saitama, Japan. In Congenit Anom (kyoto), 2013
Chondrodysplasia punctata brachytelephalangic type is a common subset of a heterogeneous group of chondrodysplasia punctata.
Calcification and airway stenosis in a child with chondrodysplasia calcificans punctata.
Gie et al., Cape Town, South Africa. In Bmj Case Rep, 2013
Chondrodysplasia punctata was diagnosed based on the clinical and radiological findings.
A long-term evaluation of 150 costochondral nasal grafts.
David et al., Bristol, United Kingdom. In J Plast Reconstr Aesthet Surg, 2013
46% of the patients were diagnosed with Binder syndrome/Chondrodysplasia punctata; other diagnoses included Tessier midline clefts, cleft lip and palate and frontonasal dysplasia.
Challenges of spine surgery in patients with chondrodysplasia punctata.
Hammerberg et al., Chicago, United States. In J Pediatr Orthop, 2013
BACKGROUND: Chondrodysplasia punctata (CDP) is a common manifestation of an etiologically heterogenous group of disorders.
Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus.
Chakraborty et al., Calcutta, India. In Indian Pediatr, 2013
We report Rhizomelic Chondrodysplasia Punctata (RDCP), a rare, autosomal recessive disorder with rhizomelic shortening of limbs, congenital cataracts and seizures but without any biochemical abnormality.
Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature.
Dobrzanska et al., Warsaw, Poland. In Pol J Radiol, 2013
BACKGROUND: Chondrodysplasia punctata (CDP) is a rare, heterogeneous congenital skeletal dysplasia, characterized by punctate or dot-like calcium deposits in cartilage observed on neonatal radiograms.
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn.
Sinha et al., Calcutta, India. In J Clin Neonatol, 2013
Rhizomelic Chondrodysplasia punctata (RCDP) is an autosomal recessive metabolic disorder affecting mainly peroxisomal function.
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrodysplasia punctata type I.
Nasr-Esfahani et al., Eşfahān, Iran. In Ann Clin Lab Sci, 2012
Rhizomelic Chondrodysplasia Punctata (RCDP) type 1 is a peroxisomal biogenesis disorder with a genetic abnormality in PEX7 gene.
The importance of ether-phospholipids: a view from the perspective of mouse models.
Brites et al., Porto, Portugal. In Biochim Biophys Acta, 2012
Defects in the biosynthesis of plasmalogens are the biochemical hallmark of the human peroxisomal disorder Rhizomelic Chondrodysplasia Punctata (RCDP), which is characterized by defects in eye, bone and nervous tissue.
Functions of plasmalogen lipids in health and disease.
Moser et al., Montréal, Canada. In Biochim Biophys Acta, 2012
Their biosynthesis starts in peroxisomes, and defects at these steps cause the malformation syndrome, Rhizomelic Chondrodysplasia Punctata (RCDP).
Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy.
Menezes et al., Boston, United States. In Childs Nerv Syst, 2012
PURPOSE: Chondrodysplasia punctata (CDP) is a group of skeletal dysplasias manifesting with progressive cervical instability that leads to neurological deficits and eventual death.
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.
Braverman et al., Baltimore, United States. In Am J Med Genet A, 2008
Clinical and molecular analysis of ARSE in CDPX1 patients supports heterogeneity for CDPX1-like phenotypes and sorting these out will help to define the biological pathway and genetic contributors. [ARSE]
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