[HTML][HTML] Genetics and genomics in Peru: Clinical and research perspective
H Guio, JA Poterico, KS Levano… - Molecular Genetics & …, 2018 - ncbi.nlm.nih.gov
Genetics and genomics in Peru: Clinical and research perspective - PMC Back to Top Skip to
main content NIH NLM Logo Access keys NCBI Homepage MyNCBI Homepage Main Content …
main content NIH NLM Logo Access keys NCBI Homepage MyNCBI Homepage Main Content …
Diverse molecular functions of aspartate β‑hydroxylase in cancer
W Zheng, X Wang, J Hu, B Bai… - Oncology …, 2020 - spandidos-publications.com
Aspartate/asparagine β‑hydroxylase (AspH) is a type II transmembrane protein that
catalyzes the post‑translational hydroxylation of definite aspartyl and asparaginyl residues in …
catalyzes the post‑translational hydroxylation of definite aspartyl and asparaginyl residues in …
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome
G Jones, K Johnson, J Eason, M Hamilton… - European Journal of …, 2022 - Elsevier
Traboulsi syndrome, otherwise known as facial dysmorphism, lens dislocation, anterior-
segment abnormalities and spontaneous filtering blebs, is an autosomal recessive condition …
segment abnormalities and spontaneous filtering blebs, is an autosomal recessive condition …
Combined proteomic and biochemical analyses redefine the consensus sequence requirement for epidermal growth factor-like domain hydroxylation
L Brewitz, BC Onisko, CJ Schofield - Journal of Biological Chemistry, 2022 - ASBMB
Epidermal growth factor-like domains (EGFDs) have important functions in cell–cell
signaling. Both secreted and cell surface human EGFDs are subject to extensive …
signaling. Both secreted and cell surface human EGFDs are subject to extensive …
Aspartate/asparagine-β-hydroxylase: a high-throughput mass spectrometric assay for discovery of small molecule inhibitors
L Brewitz, A Tumber, I Pfeffer, MA McDonough… - Scientific Reports, 2020 - nature.com
The human 2-oxoglutarate dependent oxygenase aspartate/asparagine-β-hydroxylase
(AspH) catalyses the hydroxylation of Asp/Asn-residues in epidermal growth factor-like …
(AspH) catalyses the hydroxylation of Asp/Asn-residues in epidermal growth factor-like …
Kinetic parameters of human aspartate/asparagine–β-hydroxylase suggest that it has a possible function in oxygen sensing
L Brewitz, A Tumber, CJ Schofield - Journal of Biological Chemistry, 2020 - ASBMB
Human aspartate/asparagine–β-hydroxylase (AspH) is a 2-oxoglutarate (2OG)–dependent
oxygenase that catalyzes the post-translational hydroxylation of Asp and Asn residues in …
oxygenase that catalyzes the post-translational hydroxylation of Asp and Asn residues in …
Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation
Purpose: Stability of the crystalline lens requires formation of microfibril bundles and their
higher-order structures of ciliary zonules. Trauma, malformation, or degeneration of the …
higher-order structures of ciliary zonules. Trauma, malformation, or degeneration of the …
Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH
T Van Hoorde, F Nerinckx, E Kreps, D Roels… - Ophthalmic …, 2021 - Taylor & Francis
Background Traboulsi syndrome is a very rare, syndromic form of ectopia lentis that is
potentially sight-threatening at a young age. It is characterized by typical facial, skeletal and …
potentially sight-threatening at a young age. It is characterized by typical facial, skeletal and …
Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis
N Kulkarni, IC Lloyd, J Ashworth, S Biswas… - Clinical …, 2019 - journals.lww.com
Traboulsi syndrome is an extremely rare ophthalmological disorder characterised by facial
dysmorphism, lens dislocation, anterior segment abnormalities and spontaneous filtering …
dysmorphism, lens dislocation, anterior segment abnormalities and spontaneous filtering …
Synthesis of 2-oxoglutarate derivatives and their evaluation as cosubstrates and inhibitors of human aspartate/asparagine-β-hydroxylase
L Brewitz, Y Nakashima, CJ Schofield - Chemical Science, 2021 - pubs.rsc.org
2-Oxoglutarate (2OG) is involved in biological processes including oxidations catalyzed by
2OG oxygenases for which it is a cosubstrate. Eukaryotic 2OG oxygenases have roles in …
2OG oxygenases for which it is a cosubstrate. Eukaryotic 2OG oxygenases have roles in …