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Article

Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation.

Journal of neuropathology and experimental neurology - 1 Mar 2010

Vattemi Gaetano, Gualandi Francesca, Oosterhof Arie, Marini Matteo, Tonin Paola, Rimessi Paola, Neri Marcella, Guglielmi Valeria, Russignan Anna, Poli Consuelo, van Kuppevelt Toin H, Ferlini Alessandra, Tomelleri Giuliano

Abstract excerpt

Brody disease is an inherited disorder of skeletal muscle function characterized by increasing impairment of relaxation during exercise. The autosomal recessive form can be caused by mutations in the ATP2A1 gene, which encodes for the sarcoplasmic/endoplasmic reticulum Ca-ATPase 1 (SERCA1) protein. We studied 2 siblings affected by Brody disease. The patients complained of exercise-induced delay of muscle...

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PMID: 20142766
DOI: 10.1097/NEN.0b013e3181d0f7d5

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Brody disease: insights into biochemical features of SERCA1 and identification of a novel mutation.PMID 20142766Read ↗

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Brody syndrome: a clinically heterogeneous entity distinct from Brody disease: a review of literature and a cross-sectional clinical study in 17 patients.Semantic proximity Read ↗

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease.Semantic proximity Read ↗

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The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease.Semantic proximity Read ↗

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Brody Disease, an Early-Onset Myopathy With Delayed Relaxation and Abnormal Gait: A Case Series of 9 Children.Semantic proximity Read ↗

Structure/function analysis of the Ca2+ binding and translocation domain of SERCA1 and the role in Brody disease of the ATP2A1 gene encoding SERCA1.Semantic proximity Read ↗

Targeted disruption of the ATP2A1 gene encoding the sarco(endo)plasmic reticulum Ca2+ ATPase isoform 1 (SERCA1) impairs diaphragm function and is lethal in neonatal mice.Semantic proximity Read ↗

A homozygous<i>ATP2A2</i>variant alters sarcoendoplasmic reticulum Ca<sup>2+</sup>-ATPase 2 function in skeletal muscle and causes a novel vacuolar myopathySemantic proximity Read ↗

Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscleSemantic proximity Read ↗

Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease.Semantic proximity Read ↗

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