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Expression profile of muscle and kidney tissues from GNE M743T/M743T knock in mice and wild-type

ABSTRACT: This SuperSeries is composed of the SubSeries listed below.

ORGANISM(S): Mus musculus

PROVIDER: GSE141302 | GEO | 2020/04/29

REPOSITORIES: GEO

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Expression profile of kidney from GNE M743T/M743T knock in mice and wild-type

Project description:Background. Mutations in GNE cause a recessive, adult onset myopathy characterized by slowly progressive distal and proximal muscle weakness. Knock-in mice carrying the most frequent mutation in GNE myopathy patients, GneM743T/M743T, usually die few days after birth from severe renal failure, with no muscle phenotype. However, a spontaneous sub-colony remains healthy throughout a normal lifespan without any kidney or muscle pathology. Objective. We attempted to decipher the molecular mechanisms behind these phenotypic differences and to determine the mechanisms preventing the kidney and muscles from disease. Methods. We analyzed the transcriptome and proteome of kidneys and muscles of sick and healthy GneM743T/M743T mice. Results. The sick GneM743T/M743T kidney was characterized by up-regulation of extra-cellular matrix degradation related processes and by down-regulation of oxidative phosphorylation and respiratory electron chain pathway, that was also observed in the asymptomatic muscles. Surprisingly, the healthy kidneys of the GneM743T/M743T mice were characterized by up-regulation of hallmark muscle genes. In addition he asymptomatic muscles of the sick GneM743T/M743T mice showed upregulation of transcription and translation processes Conclusions. Overexpression of muscle physiology genes in healthy GneM743T/M743T mice seems to define the protecting mechanism in these mice. Furthermore, the strong involvement of muscle related genes in kidney may bridge the apparent phenotypic gap between GNE myopathy and the knock-in GneM743T/M743T mouse model and provide new directions in the study of GNE function in health and disease.

2020-04-29 | GSE128496 | GEO

Expression profile of muscle and kidney tissues from GNE M743T/M743T knock in mice and wild-type

Project description:Expression profile of muscle and kidney tissues from GNE M743T/M743T knock in mice and wild-type

| PRJNA593022 | ENA

Expression profile of muscles from GNE M743T/M743T knock in mice and wild-type

2020-04-29 | GSE141301 | GEO

Expression profile of kidney from GNE M743T/M743T knock in mice and wild-type

Project description:Expression profile of kidney from GNE M743T/M743T knock in mice and wild-type

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Comparative testicular transcriptome of wild type and globozoospermic Dpy19l2 knock out mice.

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Expression profile of muscles from GNE M743T/M743T knock in mice and wild-type

Project description:Expression profile of muscles from GNE M743T/M743T knock in mice and wild-type

| PRJNA593024 | ENA

Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype.

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| S-EPMC7175939 | biostudies-literature

Gene expression profile (RNAseq) in atrophic gastrocnemius muscle of wild type, ZEB1 and ZEB2 knock out mice

Project description:Purpose: Characterize the gene expression profile of gastrocnemius muscle in wild type, ZEB1 and ZEB2 knock out mice subjected to 36 hours of fasting Methods: RNA sequencing of RNA from total gastrocnemius muscle after 36h of fasting from the three genotypes used in this study: ZEB1-control, ZEB1-KO, ZEB2-control, ZEB2-KO. Males and females were used from the four genotype (ZEB1flx/flx, ZEB1flx/flx;HSACre, ZEB2flx/flx, ZEB2flx/flx;HSACre). Results: Knockout of ZEB1 or ZEB2 results in differential gene expression in atrophic gastrocnemius muscle Conclusions: Comparison of wild type, ZEB1 and ZEB2 KO muscles displayed differential gene expression profiles after fasting

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Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype.

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Transcriptional Profile of Kidney from Type 2 Diabetic db/db Mice.

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