Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1. Orphanet J Rare Dis 2014

Dorboz I*, Coutelier M*, Bertrand AT, Caberg JH, Elmaleh-Bergès M, Lainé J, Stevanin G, Bonne G, Boespflug-Tanguy O and Servais L (*co-first authors). Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1. Orphanet J Rare Dis 2014, 9:174

Figure : Sub-expression and mislocalization of LAP1. A. Three bands were observed
using anti-LAP1 antibody in control fibroblasts. Fibroblasts from the patient had significantly
less of the larger isoforms, whereas the expression of the shorter isoform was less affected
(LAP1 antibodies: courtesy of Dr. W.T. Dauer, anti-GAPDH: Santa Cruz Biotechnology;
Olympus FV-1000 confocal microscope). B. Fibroblasts from patient show a strong reduction
or total absence of LAP1 at the nuclear envelope. A faint staining for LAP1 was observed at
the ER (stained with calnexin antibodies, Santa Cruz Biotechnology; secondary Alexaconjugates
antibodies, Life Technologies; HRP-conjugated antibodies: Jackson
ImmunoResearch), and strong staining was observed in some regions (see magnification in
the inset). Scale bar: 10 μm. C. Electron micrograph of patient fibroblast did not reveal
alterations at the nuclear envelope. Scale bar: 5 μm; inset: 500 nm.

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