Lisa M. Crowther

Zurich, ZH 8032, Switzerland

Last Updated: 09/26/2026

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Found 13 publications

Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration.

Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration.

Journal: Science advances

Published: April 15, 2022

Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.

Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.

Journal: Journal of inherited metabolic disease

Published: April 02, 2021

Distal and proximal hypoxia response elements cooperate to regulate organ-specific erythropoietin gene expression.

Distal and proximal hypoxia response elements cooperate to regulate organ-specific erythropoietin gene expression.

Journal: Haematologica

Published: December 19, 2019

New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.

New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.

Journal: Journal of inherited metabolic disease

Published: July 06, 2018

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

Journal: European journal of human genetics : EJHG

Published: March 21, 2018

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.

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.

Journal: Kidney international

Published: January 15, 2018

Multiomics tools for the diagnosis and treatment of rare neurological disease.

Multiomics tools for the diagnosis and treatment of rare neurological disease.

Journal: Journal of inherited metabolic disease

Published: October 18, 2017

Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.

Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.

Journal: Journal of medical genetics

Published: January 10, 2017

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

Journal: Journal of inherited metabolic disease

Published: April 25, 2016

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.

Journal: PloS one

Published: March 15, 2016

N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.

N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.

Journal: Journal of inherited metabolic disease

Published: February 23, 2015

Distributed expertise: qualitative study of a British network of multidisciplinary teams supporting parents of children with chronic kidney disease.

Distributed expertise: qualitative study of a British network of multidisciplinary teams supporting parents of children with chronic kidney disease.

Journal: Child: care, health and development

Published: March 28, 2014

Showing 1-12 of 13

Last Updated: 09/26/2026