Joachim Berger
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View article: Redundant and novel functions of scube genes during zebrafish development
Redundant and novel functions of scube genes during zebrafish development Open
The N-glycoprotein SCUBE family (Scube1, Scube2, and Scube3) plays diverse roles in vertebrate development and disease, yet many specific functions of the three family members remain unclear. These proteins exhibit broad tissue expression …
View article: Loss of Sec-1 Family Domain-Containing 1 (scfd1) Causes Severe Cardiac Defects and Endoplasmic Reticulum Stress in Zebrafish
Loss of Sec-1 Family Domain-Containing 1 (scfd1) Causes Severe Cardiac Defects and Endoplasmic Reticulum Stress in Zebrafish Open
Dilated cardiomyopathy (DCM) is a common heart muscle disorder that frequently leads to heart failure, arrhythmias, and death. While DCM is often heritable, disease-causing mutations are identified in only ~30% of cases. In a forward genet…
View article: The Role of TRiC-enhanced Actin Folding in Leber Congenital Amaurosis
The Role of TRiC-enhanced Actin Folding in Leber Congenital Amaurosis Open
Purpose: Mutations in TCP-1 ring complex (TRiC) have been associated with Leber Congenital Amaurosis (LCA). TRiC is involved in protein folding and has 8 essential subunits including CCT5. Herein, we studied the retina of TRiC mutant zebra…
View article: Loss of Sec-1 Family Domain-Containing 1 (Scfd1) Causes Severe Cardiac Defects and Endoplasmic Reticulum Stress in Zebrafish
Loss of Sec-1 Family Domain-Containing 1 (Scfd1) Causes Severe Cardiac Defects and Endoplasmic Reticulum Stress in Zebrafish Open
View article: Genetic dissection of novel myopathy models reveals a role of CapZα and Leiomodin 3 during myofibril elongation
Genetic dissection of novel myopathy models reveals a role of CapZα and Leiomodin 3 during myofibril elongation Open
Myofibrils within skeletal muscle are composed of sarcomeres that generate force by contraction when their myosin-rich thick filaments slide past actin-based thin filaments. Although mutations in components of the sarcomere are a major cau…
View article: Effect of Ataluren on dystrophin mutations
Effect of Ataluren on dystrophin mutations Open
Duchenne muscular dystrophy is a severe muscle wasting disease caused by mutations in the dystrophin gene ( dmd ). Ataluren has been approved by the European Medicines Agency for treatment of Duchenne muscular dystrophy. Ataluren has been …
View article: The ADAMTS5 Metzincin Regulates Zebrafish Somite Differentiation
The ADAMTS5 Metzincin Regulates Zebrafish Somite Differentiation Open
The ADAMTS5 metzincin, a secreted zinc-dependent metalloproteinase, modulates the extracellular matrix (ECM) during limb morphogenesis and other developmental processes. Here, the role of ADAMTS5 was investigated by knockdown of zebrafish …
View article: Myo18b is essential for sarcomere assembly in fast skeletal muscle
Myo18b is essential for sarcomere assembly in fast skeletal muscle Open
Congenital myopathies are muscle degenerative disorders with a broad clinical spectrum. A number of myopathies have been associated with molecular defects within sarcomeres, the force-generating component of the muscle cell. Whereas the hi…
View article: Foliation deficits of cerebellum-selective Pax6 conditional mutants
Foliation deficits of cerebellum-selective Pax6 conditional mutants Open
Transcription factor Pax6 is a key regulator of progenitor cells in the mammalian telencephalon and eye, and it is also expressed during the development of the cerebellum. Studies using Pax6 knock out (KO) mice have revealed its critical r…