(Q38209473)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24797558%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

title

Modelling inborn errors of metabolism in zebrafish (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24797558%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24797558%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Claire Russell

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24797558%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

author name string

Kim Wager

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24797558%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

publication date

6 May 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24797558%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

17 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24797558%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

volume

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24797558%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24797558%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

page(s)

483-495

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24797558%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s10545-014-9696-5

17 March 2020

exact match

0 references

cites work

Intermittent fasting dissociates beneficial effects of dietary restriction on glucose metabolism and neuronal resistance to injury from calorie intake

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Lessons from morpholino-based screening in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Use of model organisms for the study of neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Swimming into the future of drug discovery: in vivo chemical screens in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Abcb10 physically interacts with mitoferrin-1 (Slc25a37) to enhance its stability and function in the erythroid mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Zebrafish dracula encodes ferrochelatase and its mutation provides a model for erythropoietic protoporphyria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Progranulin modulates zebrafish motoneuron development in vivo and rescues truncation defects associated with knockdown of Survival motor neuron 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Maple syrup urine disease: it has come a long way.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Structure-activity relationship study of bone morphogenetic protein (BMP) signaling inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Ferrochelatase at the millennium: structures, mechanisms and [2Fe-2S] clusters

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Efficient shRNA-mediated inhibition of gene expression in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Heritable and lineage-specific gene knockdown in zebrafish embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Zebrafish: a model system for the study of human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

montalcino, A zebrafish model for variegate porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Zinc finger-based knockout punches for zebrafish genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Altered chondrocyte differentiation and extracellular matrix homeostasis in a zebrafish model for mucolipidosis II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Knockdown of cathepsin D in zebrafish fertilized eggs determines congenital myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Knock-down of cathepsin D affects the retinal pigment epithelium, impairs swim-bladder ontogenesis and causes premature death in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Mutation of zebrafish dihydrolipoamide branched-chain transacylase E2 results in motor dysfunction and models maple syrup urine disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Whole-organism screening for gluconeogenesis identifies activators of fasting metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Gal4/UAS transgenic tools and their application to zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Reverse genetic approaches in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Short-term dietary interventions in children and adolescents with treated phenylketonuria: effects on neuropsychological outcome of a well-controlled population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Efficient genome editing in zebrafish using a CRISPR-Cas system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Functional and developmental analysis of the blood-brain barrier in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

A systematic genome-wide analysis of zebrafish protein-coding gene function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

The zebrafish as a vertebrate model of functional aging and very gradual senescence

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Progranulin is neurotrophic in vivo and protects against a mutant TDP-43 induced axonopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Zebrafish in endocrine systems: recent advances and implications for human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Function and regulation of human copper-transporting ATPases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Zebrafish mutants calamity and catastrophe define critical pathways of gene-nutrient interactions in developmental copper metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

In vivo correction of a Menkes disease model using antisense oligonucleotides

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Distinct retinal deficits in a zebrafish pyruvate dehydrogenase-deficient mutant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Prevalence of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Atp7a determines a hierarchy of copper metabolism essential for notochord development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Reverse genetics in zebrafish by TILLING.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

A novel functional role of iduronate-2-sulfatase in zebrafish early development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Iron trafficking in the mitochondrion: novel pathways revealed by disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Branched-chain organic acidurias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Clinical, biochemical and enzymatic studies in type I hyperprolinemia associated with chromosomal abnormality.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

The art and design of genetic screens: zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Molecular characterization of homozygous variegate porphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Targeted gene disruption in somatic zebrafish cells using engineered TALENs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Proline-induced changes in acetylcholinesterase activity and gene expression in zebrafish brain: reversal by antipsychotic drugs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Behavioral changes induced by long-term proline exposure are reversed by antipsychotics in zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Genomic editing opens new avenues for zebrafish as a model for neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Requirement of Npc1 and availability of cholesterol for early embryonic cell movements in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Lysosomal storage disorders in the newborn

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Zebrafish as a model system for mitochondrial biology and diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

TILLING--a high-throughput harvest for functional genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Discovery of induced point mutations in maize genes by TILLING

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Adult phenylketonuria outcome and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Targeted gene knockdown in zebrafish using negatively charged peptide nucleic acid mimics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Mitophagy and neurodegeneration: the zebrafish model system

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Pathogenic cascades in lysosomal disease-Why so complex?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Abnormal mitoferrin-1 expression in patients with erythropoietic protoporphyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

DHODH modulates transcriptional elongation in the neural crest and melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

The microRNA-producing enzyme Dicer1 is essential for zebrafish development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

BMP type I receptor inhibition reduces heterotopic [corrected] ossification

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

Double-stranded RNA injection produces nonspecific defects in zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

TALEN-mediated precise genome modification by homologous recombination in zebrafish.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9696-5

The porphyrias: advances in diagnosis and treatment

21 January 2018

1 reference

12 December 2020

Inborn errors of proline metabolism.

1 reference

12 December 2020

Genetic analysis of dorsoventral pattern formation in the zebrafish: requirement of a BMP-like ventralizing activity and its dorsal repressor

1 reference

12 December 2020

Overview of the molecular and biochemical basis of branched-chain amino acid catabolism.

1 reference

12 December 2020

Screening for lysosomal storage disorders--a clinical perspective

1 reference

12 December 2020

A genetic screen for mutations affecting embryogenesis in zebrafish.

1 reference

12 December 2020

Inborn errors of metabolism in infancy and early childhood: an update

1 reference

12 December 2020

A zebrafish model for hepatoerythropoietic porphyria

1 reference

12 December 2020

Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency

1 reference

12 December 2020

Genetic dissection of the retinotectal projection.

1 reference

12 December 2020

The identification of genes with unique and essential functions in the development of the zebrafish, Danio rerio.

1 reference

12 December 2020