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Literature DB >> 29039140

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.

Johann Böhm¹, Xavière Lornage², Frederic Chevessier³, Catherine Birck², Simona Zanotti⁴, Paola Cudia⁵, Monica Bulla⁶, Florence Granger², Mai Thao Bui⁷, Maxime Sartori², Christiane Schneider-Gold⁸, Edoardo Malfatti⁷, Norma B Romero⁷, Marina Mora⁴, Jocelyn Laporte⁹.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2017 PMID： 29039140 DOI： 10.1007/s00401-017-1775-x

Source DB: PubMed Journal: Acta Neuropathol ISSN： 0001-6322 Impact factor: 17.088

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11 in total

Review 1. The Sarcoplasmic Reticulum of Skeletal Muscle Cells: A Labyrinth of Membrane Contact Sites.

Authors: Daniela Rossi; Enrico Pierantozzi; David Osamwonuyi Amadsun; Sara Buonocore; Egidio Maria Rubino; Vincenzo Sorrentino
Journal: Biomolecules Date: 2022-03-23

2. The clinical spectrum of CASQ1-related myopathy.

Authors: Claudio Semplicini; Cinzia Bertolin; Luca Bello; Boris Pantic; Francesca Guidolin; Sara Vianello; Francesco Catapano; Irene Colombo; Maurizio Moggio; Bruno F Gavassini; Giovanna Cenacchi; Valentina Papa; Marco Previtero; Chiara Calore; Gianni Sorarù; Giovanni Minervini; Silvio C E Tosatto; Roberto Stramare; Elena Pegoraro
Journal: Neurology Date: 2018-09-26 Impact factor: 9.910

3. Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation.

Authors: Amy D Hanna; Chang Seok Lee; Lyle Babcock; Hui Wang; Joseph Recio; Susan L Hamilton
Journal: FASEB J Date: 2021-05 Impact factor: 5.191

4. Protein disulphide isomerase can predict the clinical prognostic value and contribute to malignant progression in gliomas.

Authors: Qing Hu; Kai Huang; Chuming Tao; Xingen Zhu
Journal: J Cell Mol Med Date: 2020-04-17 Impact factor: 5.310

5. Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy.

Authors: Elena Conte; Alessandra Pannunzio; Paola Imbrici; Giulia Maria Camerino; Lorenzo Maggi; Marina Mora; Sara Gibertini; Ornella Cappellari; Annamaria De Luca; Mauro Coluccia; Antonella Liantonio
Journal: Front Cell Dev Biol Date: 2021-02-26

Review 6. Calsequestrin: a well-known but curious protein in skeletal muscle.

Authors: Jin Seok Woo; Seung Yeon Jeong; Ji Hee Park; Jun Hee Choi; Eun Hui Lee
Journal: Exp Mol Med Date: 2020-12-07 Impact factor: 8.718

7. Silencing of the Ca²⁺ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice.

Authors: Roberto Silva-Rojas; Laura Pérez-Guàrdia; Emma Lafabrie; David Moulaert; Jocelyn Laporte; Johann Böhm
Journal: Int J Mol Sci Date: 2022-06-23 Impact factor: 6.208

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.

Review 1. The Sarcoplasmic Reticulum of Skeletal Muscle Cells: A Labyrinth of Membrane Contact Sites.

2. The clinical spectrum of CASQ1-related myopathy.

3. Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation.

4. Protein disulphide isomerase can predict the clinical prognostic value and contribute to malignant progression in gliomas.

5. Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy.

Review 6. Calsequestrin: a well-known but curious protein in skeletal muscle.

7. Silencing of the Ca²⁺ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice.

Review 8. Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.

Review 9. Calsequestrin, a key protein in striated muscle health and disease.

10. Calcium entry units (CEUs): perspectives in skeletal muscle function and disease.

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.

Review 1. The Sarcoplasmic Reticulum of Skeletal Muscle Cells: A Labyrinth of Membrane Contact Sites.

2. The clinical spectrum of CASQ1-related myopathy.

3. Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation.

4. Protein disulphide isomerase can predict the clinical prognostic value and contribute to malignant progression in gliomas.

5. Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy.

Review 6. Calsequestrin: a well-known but curious protein in skeletal muscle.

7. Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice.

Review 8. Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.

Review 9. Calsequestrin, a key protein in striated muscle health and disease.

10. Calcium entry units (CEUs): perspectives in skeletal muscle function and disease.

7. Silencing of the Ca²⁺ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice.