Functional analyses of STIM1 mutations reveal a common pathomechanism for tubular aggregate myopathy and Stormorken syndrome.

Peche, Georges Arielle; Spiegelhalter, Coralie; Silva-Rojas, Roberto; Laporte, Jocelyn; Böhm, Johann

Peche, Georges Arielle; Spiegelhalter, Coralie; Silva-Rojas, Roberto; Laporte, Jocelyn; Böhm, Johann.

Affiliation

Peche GA; Department of Translational Medicine and Neurogenetics, Institute of Genetics and Molecular and Cellular Biology (IGBMC), Illkirch, France.
Spiegelhalter C; INSERM U1258, Illkirch, France.
Silva-Rojas R; CNRS UMR7104, Illkirch, France.
Laporte J; University of Strasbourg, Illkirch, France.
Böhm J; Department of Translational Medicine and Neurogenetics, Institute of Genetics and Molecular and Cellular Biology (IGBMC), Illkirch, France.

Neuropathology ; 40(6): 559-569, 2020 Dec.

Article in En | MEDLINE | ID: mdl-33073872

Subject(s)

Blood Platelet Disorders/genetics; Dyslexia/genetics; Ichthyosis/genetics; Migraine Disorders/genetics; Miosis/genetics; Myopathies, Structural, Congenital/genetics; Neoplasm Proteins/genetics; Spleen/abnormalities; Stromal Interaction Molecule 1/genetics; Animals; Blood Platelet Disorders/metabolism; Blood Platelet Disorders/pathology; Cells, Cultured; Dyslexia/metabolism; Dyslexia/pathology; Erythrocytes, Abnormal/metabolism; Erythrocytes, Abnormal/pathology; Humans; Ichthyosis/metabolism; Ichthyosis/pathology; Mice; Migraine Disorders/metabolism; Migraine Disorders/pathology; Miosis/metabolism; Miosis/pathology; Muscle Fatigue/genetics; Mutation; Myopathies, Structural, Congenital/metabolism; Myopathies, Structural, Congenital/pathology; NFATC Transcription Factors/metabolism; ORAI1 Protein/metabolism; Spleen/metabolism; Spleen/pathology; Transfection

Key words

SOCE; STIM1; Stormorken syndrome; calcium; tubular aggregate myopathy

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spleen / Blood Platelet Disorders / Miosis / Myopathies, Structural, Congenital / Dyslexia / Stromal Interaction Molecule 1 / Ichthyosis / Migraine Disorders / Neoplasm Proteins Limits: Animals / Humans Language: En Journal: Neuropathology Journal subject: NEUROLOGIA / PATOLOGIA Year: 2020 Type: Article Affiliation country: France

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