Knockdown of cathepsin D in zebrafish fertilized eggs determines congenital myopathy

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Knockdown of cathepsin D in zebrafish fertilized eggs determines congenital myopathy

CD (cathepsin D) is a ubiquitous lysosomal hydrolase involved in a variety of pathophysiological functions, including protein turnover, activation of pro-hormones, cell death and embryo development. CD-mediated proteolysis plays a pivotal role in tissue and organ homoeostasis. Altered expression and compartmentalization of CD have been observed in diseased muscle fibres. Whether CD is actively ...

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Knockdown of fast skeletal myosin-binding protein C in zebrafish results in a severe skeletal myopathy

Myosin-binding protein C (MyBPC) in the muscle sarcomere interacts with several contractile and structural proteins. Mutations in the cardiac isoform (MyBPC-3) in humans, or animal knockout, are associated with cardiomyopathy. Function of the fast skeletal isoform (MyBPC-2) in living muscles is less understood. This question was addressed using zebrafish models, combining gene expression data w...

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Although, the first transgenic animal was produced more than 30 years ago, there are still many factors limiting efficiency of transgenesis. One of them is the low rate of transgene incorporation into the genome of microinjected eggs. This mini-review summarizes recent research methods based on pronuclear microinjection of rabbit fertilized eggs in order to reach higher efficiency of transgene ...

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Electrophoretic movement of fertilized sea-urchin eggs.

The eccentric shift of the sea-urchin egg within the fertilization membrane under an electric field was analysed by measuring the electrophoretic mobility of the isolated fertilization membrane and that of the egg deprived of the fertilization membrane. In addition, the migration speed of the egg proper was measured within the fertilization membrane under the conditions that: either (1) the mov...

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Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis.

Congenital neuronal ceroid-lipofuscinosis (NCL) is a devastating inherited neurodegenerative disorder of unknown metabolic basis. Eight patients with this rare disorder, all with similar clinical and neuropathological findings, have been reported, and here we describe two further patients. Previously, we showed that a mutation in the cathepsin D gene causes congenital NCL in sheep. On the basis...

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ژورنال

عنوان ژورنال: Bioscience Reports

سال: 2013

ISSN: 0144-8463,1573-4935

DOI: 10.1042/bsr20120100