(Q38089518)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23493083%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

title

Animal models for metabolic, neuromuscular and ophthalmological rare diseases (English)

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26 February 2020

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7

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26 February 2020

author name string

Guillaume Vaquer

1

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26 February 2020

Frida Rivière

2

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26 February 2020

Maria Mavris

3

1 reference

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26 February 2020

Fabrizia Bignami

4

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26 February 2020

Jordi Llinares-Garcia

5

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26 February 2020

Kerstin Westermark

6

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26 February 2020

publication date

15 March 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23493083%20AND%20SRC:MED&resulttype=core&format=json

Nature Reviews Drug Discovery

26 February 2020

published in

1 reference

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26 February 2020

volume

12

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26 February 2020

issue

4

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26 February 2020

page(s)

287-305

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European regulation on orphan medicinal products: 10 years of experience and future perspectives.

26 February 2020

cites work

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alpha-Galactosidase A deficient mice: a model of Fabry disease

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Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice.

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Gene therapy for lysosomal storage diseases (LSDs) in large animal models

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Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease

21 January 2018

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Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease

21 January 2018

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Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

21 January 2018

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Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease

21 January 2018

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Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

21 January 2018

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Animal models for Gaucher disease research

21 January 2018

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Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure

21 January 2018

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Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage

21 January 2018

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Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease

21 January 2018

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Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels

21 January 2018

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Overview of the mucopolysaccharidoses

21 January 2018

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Characterization of an immunodeficient mouse model of mucopolysaccharidosis type I suitable for preclinical testing of human stem cell and gene therapy

21 January 2018

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A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).

21 January 2018

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Pathology of Mucopolysaccharidosis IIIA in Huntaway Dogs

21 January 2018

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Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome

21 January 2018

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Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease

21 January 2018

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Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase

21 January 2018

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Patterned Purkinje cell degeneration in mouse models of Niemann-Pick type C disease.

21 January 2018

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Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease

21 January 2018

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Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II

21 January 2018

1 reference

Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors

21 January 2018

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Neural deficits contribute to respiratory insufficiency in Pompe disease

21 January 2018

1 reference

Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease).

21 January 2018

1 reference

Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice

21 January 2018

1 reference

Recent progress in lysosomal alpha-mannosidase and its deficiency

21 January 2018

1 reference

Characterization of alpha-mannosidase in feline mannosidosis

21 January 2018

1 reference

Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis

21 January 2018

1 reference

Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study

21 January 2018

1 reference

Effective gene therapy for an inherited CNS disease in a large animal model

21 January 2018

1 reference

Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement

21 January 2018

1 reference

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations

21 January 2018

1 reference

Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia.

21 January 2018

1 reference

Amyotrophic lateral sclerosis models and human neuropathology: similarities and differences

21 January 2018

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Experimental models for the study of neurodegeneration in amyotrophic lateral sclerosis

21 January 2018

1 reference

Lost in translation: treatment trials in the SOD1 mouse and in human ALS.

21 January 2018

1 reference

ALS2/alsin knockout mice and motor neuron diseases

21 January 2018

1 reference

Motor neuron disease occurring in a mutant dynactin mouse model is characterized by defects in vesicular trafficking

21 January 2018

1 reference

AMPA receptor activation, but not the accumulation of endogenous extracellular glutamate, induces paralysis and motor neuron death in rat spinal cord in vivo.

21 January 2018

1 reference

Murine motor neuron disease (the wobbler mouse): degeneration and regeneration of the lower motor neuron

21 January 2018

1 reference

A new mouse mutant with progressive motor neuronopathy

21 January 2018

1 reference

Early alterations in the electrophysiological properties of rat spinal motoneurones following neonatal axotomy

21 January 2018

1 reference

Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

21 January 2018

1 reference

Characterization of huntingtin pathologic fragments in human Huntington disease, transgenic mice, and cell models.

21 January 2018

1 reference

Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease

21 January 2018

1 reference

Animal models of Huntington's disease: implications in uncovering pathogenic mechanisms and developing therapies

21 January 2018

1 reference

Knock-in mouse models of Huntington's disease

21 January 2018

1 reference

Rodent genetic models of Huntington disease

21 January 2018

1 reference

Normal sensitivity to excitotoxicity in a transgenic Huntington's disease rat.

21 January 2018

1 reference

Large animal models of neurological disorders for gene therapy

21 January 2018

1 reference

Generation of transgenic monkeys with human inherited genetic disease

21 January 2018

1 reference

Autoimmune disorders of the neuromuscular junction

21 January 2018

1 reference

Animal models of myasthenia gravis

21 January 2018

1 reference

Possible therapeutic vaccines for canine myasthenia gravis: implications for the human disease and associated fatigue

21 January 2018

1 reference

Anti-Inflammatory Activity of Human IgG4 Antibodies by Dynamic Fab Arm Exchange

21 January 2018

1 reference

Passive transfer of Lambert-Eaton syndrome to mice induces dihydropyridine sensitivity of neuromuscular transmission

21 January 2018

1 reference

An autoimmune animal model of the Lambert-Eaton syndrome

21 January 2018

1 reference

Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice

21 January 2018

1 reference

Phenotypic Correction of α-Sarcoglycan Deficiency by Intra-arterial Injection of a Muscle-specific Serotype 1 rAAV Vector.

21 January 2018

2 references

21 January 2018

Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).

31 March 2020

1 reference

Force impairment in calpain 3-deficient mice is not correlated with mechanical disruption.

21 January 2018

1 reference

AAV-mediated delivery of a mutated myostatin propeptide ameliorates calpain 3 but not alpha-sarcoglycan deficiency

21 January 2018

1 reference

Animal models in research on retinal degenerations: past progress and future hope

21 January 2018

1 reference

Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice

21 January 2018

1 reference

Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration.

21 January 2018

1 reference

The Inheritance of a Retinal Abnormality in White Mice

21 January 2018

1 reference

HEREDITARY DEGENERATION OF THE RAT RETINA.

21 January 2018

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Retinal degeneration mutants in the mouse

21 January 2018

1 reference

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

21 January 2018

1 reference

Rpe65-/- and Lrat-/- mice: comparable models of leber congenital amaurosis

21 January 2018

1 reference

Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65.

21 January 2018

1 reference

Effect of gene therapy on visual function in Leber's congenital amaurosis

21 January 2018

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Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial

21 January 2018

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Animal models of allergic and inflammatory conjunctivitis.

21 January 2018

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Mouse models of experimental autoimmune uveitis

21 January 2018

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Relevance of animal models to human uveitis.

21 January 2018

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Administration of a peptide inhibitor of alpha4-integrin inhibits the development of experimental autoimmune uveitis

21 January 2018

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Cyclosporin A eye drops inhibit fibrosis and inflammatory cell infiltration in murine type I allergic conjunctivitis without affecting the early-phase reaction

21 January 2018

1 reference

The development of the rat model of retinopathy of prematurity

21 January 2018

1 reference

Low IGF-I suppresses VEGF-survival signaling in retinal endothelial cells: direct correlation with clinical retinopathy of prematurity.

21 January 2018

1 reference

Confirmation of the rat model of chronic, moderately elevated intraocular pressure.

21 January 2018

1 reference

Intravitreous injections of vascular endothelial growth factor produce retinal ischemia and microangiopathy in an adult primate

21 January 2018

1 reference

Ocular neovascularization. Experimental animal model and studies on angiogenic factor(s).

21 January 2018

1 reference

Review of the ocular angiogenesis animal models

21 January 2018

1 reference

Guidelines for preclinical animal research in ALS/MND: A consensus meeting

21 January 2018

1 reference

A call for transparent reporting to optimize the predictive value of preclinical research

21 January 2018

1 reference

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

21 January 2018

1 reference

Direct gene transfer to the CNS prevents emergence of neurologic disease in a murine model of mucopolysaccharidosis type I.

21 January 2018

1 reference

Chemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII.

21 January 2018

1 reference

Importance of immunotoxicity in safety assessment: a medical toxicologist's perspective

21 January 2018

1 reference

Practical aspects of experimental design in animal research

21 January 2018

1 reference

Adenoviral-mediated expression of porphobilinogen deaminase in liver restores the metabolic defect in a mouse model of acute intermittent porphyria

21 January 2018

1 reference

Pompe disease: current state of treatment modalities and animal models.

21 January 2018

1 reference

Genetics of rare diseases of the kidney: learning from mouse models

21 January 2018

1 reference

Large animal models and gene therapy

21 January 2018

1 reference

Ocular gene therapy: current progress and future prospects

21 January 2018

1 reference

Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer

21 January 2018

1 reference

Heterologous immunity: an overlooked barrier to tolerance

21 January 2018

1 reference

Characterization of naturally occurring CD4+CD25+ regulatory T cells in rhesus monkeys.

21 January 2018

1 reference

Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

21 January 2018

1 reference

Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

21 January 2018

1 reference

The AF64A model of cholinergic hypofunction: an update

21 January 2018

1 reference

Experimental autoimmune myasthenia: A model of myasthenia gravis in rats and guinea pigs

21 January 2018

1 reference

Fine specificity of T cell lines and clones that are capable of inducing autoimmune manifestations in mice

21 January 2018

1 reference

A peptide composed of tandem analogs of two myasthenogenic T cell epitopes interferes with specific autoimmune responses

21 January 2018

1 reference

Gamma-sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin

21 January 2018

1 reference

NOD2, the gene responsible for familial granulomatous uveitis, in a mouse model of uveitis

21 January 2018

1 reference

Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria

21 January 2018

1 reference

Autoimmune Uveitis Elicited with Antigen-Pulsed Dendritic Cells Has a Distinct Clinical Signature and Is Driven by Unique Effector Mechanisms: Initial Encounter with Autoantigen Defines Disease Phenotype

21 January 2018

1 reference

Amyotrophic lateral sclerosis

21 January 2018

1 reference

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

21 January 2018

1 reference

Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase

31 March 2020

1 reference

Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology

31 March 2020

1 reference

Enzyme replacement therapy for murine hypophosphatasia

31 March 2020

1 reference

Transgenic animal models of familial amyotrophic lateral sclerosis

31 March 2020

1 reference

Motor functions in rat hindlimb muscles following neonatal sciatic nerve crush

31 March 2020

1 reference

Neurochemical and histologic characterization of striatal excitotoxic lesions produced by the mitochondrial toxin 3-nitropropionic acid

31 March 2020

1 reference

Induction of experimental autoimmune uveitis with rhodopsin synthetic peptides in Lewis rats

31 March 2020

1 reference

Oxygen-induced retinopathy in the newborn rat: effects of hyperbarism and topical administration of timolol maleate

31 March 2020

1 reference

Immune response to enzyme replacement therapy: single epitope control of antigen distribution from circulation

31 March 2020

1 reference

A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase

31 March 2020

1 reference

Alteration of transglutaminase activity in rat and human spinal cord after neuronal degeneration

31 March 2020

1 reference

Experimental autoimmune uveoretinitis in the rat and mouse

31 March 2020

1 reference

Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA).

31 March 2020

1 reference

12 December 2020

An experimental model of ectropion uveae and iris neovascularization in the cat

1 reference

12 December 2020

Morphologic and biochemical studies of canine mucopolysaccharidosis I

1 reference

12 December 2020

A chimeric mouse model of Gaucher disease

1 reference

12 December 2020

Animal model of axonal Guillain-Barré syndrome induced by sensitization with GM1 ganglioside

1 reference

12 December 2020

Alterations in retinal rod outer segment fatty acids and light-damage susceptibility in P23H rats.

1 reference

12 December 2020

Oxygen-induced retinopathy in newborn kittens. A model for ischemic vasoproliferative retinopathy

1 reference

12 December 2020

SOD1 mutations disrupt redox-sensitive Rac regulation of NADPH oxidase in a familial ALS model

1 reference

12 December 2020

Requirement for vascular endothelial growth factor in wound- and inflammation-related corneal neovascularization.

1 reference

12 December 2020

Animal models and different therapies for treatment of retinitis pigmentosa.

1 reference

12 December 2020

The pathology of the feline model of mucopolysaccharidosis I

1 reference

12 December 2020

Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report

1 reference

12 December 2020

Feline Niemann-Pick disease type C

1 reference

12 December 2020

EAU in the guinea pig: inhibition of cell-mediated immunity and Ia antigen expression by cyclosporin A.

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRD3831

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23493083%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference