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Results: 1 to 20 of 21

1.

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.

Guglielmi V, Vattemi G, Gualandi F, Voermans NC, Marini M, Scotton C, Pegoraro E, Oosterhof A, Kósa M, Zádor E, Valente EM, De Grandis D, Neri M, Codemo V, Novelli A, van Kuppevelt TH, Dallapiccola B, van Engelen BG, Ferlini A, Tomelleri G.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):162-9. doi: 10.1016/j.ymgme.2013.07.015. Epub 2013 Jul 20.

PMID:
23911890
[PubMed - indexed for MEDLINE]
2.

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

Voermans NC, Laan AE, Oosterhof A, van Kuppevelt TH, Drost G, Lammens M, Kamsteeg EJ, Scotton C, Gualandi F, Guglielmi V, van den Heuvel L, Vattemi G, van Engelen BG.

Neuromuscul Disord. 2012 Nov;22(11):944-54. doi: 10.1016/j.nmd.2012.03.012. Epub 2012 Jun 15.

PMID:
22704959
[PubMed - indexed for MEDLINE]
3.

Analysis of a zebrafish behavioral mutant reveals a dominant mutation in atp2a1/SERCA1.

Olson BD, Sgourdou P, Downes GB.

Genesis. 2010 Jun;48(6):354-61. doi: 10.1002/dvg.20631.

PMID:
20533403
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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

Vattemi G, Gualandi F, Oosterhof A, Marini M, Tonin P, Rimessi P, Neri M, Guglielmi V, Russignan A, Poli C, van Kuppevelt TH, Ferlini A, Tomelleri G.

J Neuropathol Exp Neurol. 2010 Mar;69(3):246-52. doi: 10.1097/NEN.0b013e3181d0f7d5.

PMID:
20142766
[PubMed - indexed for MEDLINE]
5.

Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease.

Drögemüller C, Drögemüller M, Leeb T, Mascarello F, Testoni S, Rossi M, Gentile A, Damiani E, Sacchetto R.

Genomics. 2008 Dec;92(6):474-7. doi: 10.1016/j.ygeno.2008.07.014. Epub 2008 Sep 25.

PMID:
18786632
[PubMed - indexed for MEDLINE]
Free Article
6.

SERCA pumps and human diseases.

Hovnanian A.

Subcell Biochem. 2007;45:337-63. Review.

PMID:
18193643
[PubMed - indexed for MEDLINE]
7.

Sarcoplasmic reticulum: the dynamic calcium governor of muscle.

Rossi AE, Dirksen RT.

Muscle Nerve. 2006 Jun;33(6):715-31. Review.

PMID:
16477617
[PubMed - indexed for MEDLINE]
8.

accordion, a zebrafish behavioral mutant, has a muscle relaxation defect due to a mutation in the ATPase Ca2+ pump SERCA1.

Hirata H, Saint-Amant L, Waterbury J, Cui W, Zhou W, Li Q, Goldman D, Granato M, Kuwada JY.

Development. 2004 Nov;131(21):5457-68. Epub 2004 Oct 6.

PMID:
15469975
[PubMed - indexed for MEDLINE]
Free Article
9.

Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family.

Novelli A, Valente EM, Bernardini L, Ceccarini C, Sinibaldi L, Caputo V, Cavalli P, Dallapiccola B.

Eur J Hum Genet. 2004 Jul;12(7):579-83.

PMID:
15083169
[PubMed - indexed for MEDLINE]
Free Article
10.

Physiological functions of plasma membrane and intracellular Ca2+ pumps revealed by analysis of null mutants.

Shull GE, Okunade G, Liu LH, Kozel P, Periasamy M, Lorenz JN, Prasad V.

Ann N Y Acad Sci. 2003 Apr;986:453-60. Review.

PMID:
12763865
[PubMed - indexed for MEDLINE]
11.

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.

Pan Y, Zvaritch E, Tupling AR, Rice WJ, de Leon S, Rudnicki M, McKerlie C, Banwell BL, MacLennan DH.

J Biol Chem. 2003 Apr 11;278(15):13367-75. Epub 2003 Jan 28.

PMID:
12556521
[PubMed - indexed for MEDLINE]
Free Article
12.

Calcium regulation and muscle disease.

Gommans IM, Vlak MH, de Haan A, van Engelen BG.

J Muscle Res Cell Motil. 2002;23(1):59-63. Review.

PMID:
12363286
[PubMed - indexed for MEDLINE]
13.

The role of ion-regulatory membrane proteins of excitation-contraction coupling and relaxation in inherited muscle diseases.

Froemming GR, Ohlendieck K.

Front Biosci. 2001 Jan 1;6:D65-74. Review.

PMID:
11145921
[PubMed - indexed for MEDLINE]
14.

Ca2+ signalling and muscle disease.

MacLennan DH.

Eur J Biochem. 2000 Sep;267(17):5291-7. Review.

PMID:
10951187
[PubMed - indexed for MEDLINE]
Free Article
15.

Abnormal intracellular ca(2+)homeostasis and disease.

Missiaen L, Robberecht W, van den Bosch L, Callewaert G, Parys JB, Wuytack F, Raeymaekers L, Nilius B, Eggermont J, De Smedt H.

Cell Calcium. 2000 Jul;28(1):1-21. Review.

PMID:
10942700
[PubMed - indexed for MEDLINE]
16.

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.

Odermatt A, Barton K, Khanna VK, Mathieu J, Escolar D, Kuntzer T, Karpati G, MacLennan DH.

Hum Genet. 2000 May;106(5):482-91.

PMID:
10914677
[PubMed - indexed for MEDLINE]
17.

Excitation-contraction-relaxation cycle: role of Ca2+-regulatory membrane proteins in normal, stimulated and pathological skeletal muscle (review).

Murray BE, Froemming GR, Maguire PB, Ohlendieck K.

Int J Mol Med. 1998 Apr;1(4):677-87. Review.

PMID:
9852282
[PubMed - indexed for MEDLINE]
18.

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

Odermatt A, Taschner PE, Scherer SW, Beatty B, Khanna VK, Cornblath DR, Chaudhry V, Yee WC, Schrank B, Karpati G, Breuning MH, Knoers N, MacLennan DH.

Genomics. 1997 Nov 1;45(3):541-53.

PMID:
9367679
[PubMed - indexed for MEDLINE]
19.

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

MacLennan DH, Rice WJ, Odermatt A.

Ann N Y Acad Sci. 1997 Nov 3;834:175-85. No abstract available.

PMID:
9405806
[PubMed - indexed for MEDLINE]
20.

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

Odermatt A, Taschner PE, Khanna VK, Busch HF, Karpati G, Jablecki CK, Breuning MH, MacLennan DH.

Nat Genet. 1996 Oct;14(2):191-4.

PMID:
8841193
[PubMed - indexed for MEDLINE]

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