Animal models for metabolic, neuromuscular and ophthalmological rare diseases. (Q38089518)

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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

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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

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Nature Reviews Drug Discovery

26 February 2020

published in

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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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https://scigraph.springernature.com/pub.10.1038/nrd3831

26 February 2020

exact match

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Neural deficits contribute to respiratory insufficiency in Pompe disease

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

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Characterization of alpha-mannosidase in feline mannosidosis.

21 January 2018

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

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

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

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

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

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A new mouse mutant with progressive motor neuronopathy.

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

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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

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

21 January 2018

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

21 January 2018

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

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

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31 March 2020

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

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21 January 2018

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

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The Inheritance of a Retinal Abnormality in White Mice

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HEREDITARY DEGENERATION OF THE RAT RETINA.

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Retinal degeneration mutants in the mouse

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21 January 2018

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21 January 2018

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

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21 January 2018

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

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Large animal models and gene therapy

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

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Heterologous immunity: an overlooked barrier to tolerance

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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The AF64A model of cholinergic hypofunction: an update

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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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

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Motor functions in rat hindlimb muscles following neonatal sciatic nerve crush

31 March 2020

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

31 March 2020

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

31 March 2020

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

31 March 2020

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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

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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

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12 December 2020

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

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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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Animal models and different therapies for treatment of retinitis pigmentosa.

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12 December 2020

The pathology of the feline model of mucopolysaccharidosis I

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12 December 2020

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

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12 December 2020

Feline Niemann-Pick disease type C

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1038/NRD3831

1 reference

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26 February 2020

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