Publications by authors named "Anna Kipfer-Kauer"

Mutations in the voltage-gated Cav2.1 P/Q-type calcium channel (CACNA1A) can cause a wide spectrum of phenotypes, including the episodic ataxia type 2. Beside the growing number of descriptions of novel CACNA1A mutations with episodic ataxia type 2 phenotype; there are only rare reports on interictal oculomotor signs other than nystagmus.

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Article Synopsis
  • The study investigates the role of amyloid precursor protein (APP) and amyloid-beta (Abeta) in the death of retinal ganglion cells in glaucoma, focusing on their distribution in C57BL/6 mice.
  • After inducing chronic ocular hypertension in the mice, immunohistochemistry was used to analyze the levels of APP and Abeta in the retinas, revealing significant differences between hypertensive and control eyes.
  • The findings indicate that elevated intraocular pressure likely causes abnormal processing of APP, leading to increased levels of both APP and Abeta in the retinas affected by glaucoma.
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Purpose: Evidence suggests that altered metabolism of amyloid precursor protein (APP) may play a role in the pathophysiology of retinal ganglion cell (RGC) death in the etiology of glaucoma. The authors sought to determine the distribution of APP and amyloid-beta (Abeta) in DBA/2J glaucomatous mouse retinas.

Methods: The retinas of 3- and 15-month-old DBA/2J mice and C57/BL-6 mice (control group) were fixed with 4% paraformaldehyde and processed for immunohistochemistry.

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