1. β-Sarcoglycan Deficiency in LGMD2E
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2. Pharmacological Chaperones for Ser114Phe
Soheili S, Gicquel E, Poupiot J, et al. Rescue of misfolded β-sarcoglycan by pharmacological chaperones. Hum Mutat 2011; 33(2):429–39.
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3. Clinical Spectrum of β-Sarcoglycanopathy
Semplicini C, Villa M, Pasanisi B, et al. Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. Neurology 2015; 84(17):1772–81.
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4. Systemic AAV Gene Transfer for LGMD2E
Pozsgai ER, Griffin DA, Heller KN, et al. Systemic AAV Gene Transfer of β-Sarcoglycan Rescues Muscle Pathology in LGMD2E. Mol Ther 2017; 25(4):855–69.
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5. Assembly Hierarchy of the Sarcoglycan Complex
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6. Membrane Sealants in Muscular Dystrophy
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7. NF-κB Blockade Rescues Dystrophic Muscle
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8. Calpastatin Functional Subdomains & Calpain
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9. Cardiolipin Protection via SS-31 in Muscle
Szeto HH. First-in-class cardiolipin-protective compound SS-31 for ocular and muscular disorders. Antioxid Redox Signal 2014; 20(10):1608–19.
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10. ACMG Variant Classification Standards
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: ACMG/AMP. Genet Med 2015; 17(5):405–24.
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