Publications by authors named "Lisa Crowther"

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Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.
Lisa M Crowther, Martin Poms, Martina Zandl-Lang, Lucia Abela, Hans Hartmann

J Inherit Metab Dis· January 2023

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Cln5 represents a new type of cysteine-based -depalmitoylase linked to neurodegeneration.
Anna V Luebben, Daniel Bender, Stefan Becker, Lisa M Crowther, Ilka Erven

Sci Adv· April 2022

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Distal and proximal hypoxia response elements cooperate to regulate organ-specific erythropoietin gene expression.
Ilaria M C Orlando, Véronique N Lafleur, Federica Storti, Patrick Spielmann, Lisa Crowther

Haematologica· December 2020

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New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.
Lisa M Crowther, Déborah Mathis, Martin Poms, Barbara Plecko

J Inherit Metab Dis· July 2019

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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Sorina M Papuc, Lucia Abela, Katharina Steindl, Anaïs Begemann, Thomas L Simmons, Lisa M Crowther

Eur J Hum Genet· March 2019

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Generation of renal Epo-producing cell lines by conditional gene tagging reveals rapid HIF-2 driven Epo kinetics, cell autonomous feedback regulation, and a telocyte phenotype.
Faik Imeri, Karen A Nolan, Andreas M Bapst, Sara Santambrogio, Irene Abreu-Rodríguez, Lisa Crowther

Kidney Int· February 2019

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Confirmation of mutations in as a novel cause of vitamin B -dependent epilepsy.
Barbara Plecko, Markus Zweier, Anaïs Begemann, Deborah Mathis, Bernhard Schmitt, Lisa M Crowther

J Med Genet· December 2017

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Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.
Lucia Abela, Ronen Spiegel, Lisa M Crowther, Andrea Klein, Katharina Steindl

PLoS One· September 2017

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The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.
Déborah Mathis, Lucia Abela, Monique Albersen, Céline Bürer, Lisa Crowther

J Inherit Metab Dis· September 2016

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N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.
Lucia Abela, Luke Simmons, Katharina Steindl, Bernhard Schmitt, Massimo Mastrangelo, Lisa M Crowther

J Inherit Metab Dis· January 2016

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A novel distal upstream hypoxia response element regulating oxygen-dependent erythropoietin gene expression.
Federica Storti, Sara Santambrogio, Lisa M Crowther, Teresa Otto, Irene Abreu-Rodríguez

Haematologica· April 2014

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ABC transporter activity linked to radiation resistance and molecular subtype in pediatric medulloblastoma.
Wendy J Ingram, Lisa M Crowther, Erica B Little, Ruth Freeman, Ivon Harliwong

Exp Hematol Oncol· October 2013

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Chicken ovalbumin upstream promoter-transcription factor II regulates nuclear receptor, myogenic, and metabolic gene expression in skeletal muscle cells.
Lisa M Crowther, Shu-Ching Mary Wang, Natalie A Eriksson, Stephen A Myers, Lauren A Murray

Physiol Genomics· February 2011

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Rev-erb beta regulates the Srebp-1c promoter and mRNA expression in skeletal muscle cells.
Sathiya N Ramakrishnan, Patrick Lau, Lisa M Crowther, Mark E Cleasby, Susan Millard

Biochem Biophys Res Commun· October 2009

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H-cadherin expression reduces invasion of malignant melanoma.
Silke Kuphal, Adam C Martyn, Julie Pedley, Lisa M Crowther, Vanessa F Bonazzi

Pigment Cell Melanoma Res· June 2009

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