scholarly journals Frizzled related protein deficiency impairs muscle strength, gait and calpain 3 levels

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Leire Casas-Fraile ◽  
Frederique M. Cornelis ◽  
Domiziana Costamagna ◽  
Anabel Rico ◽  
Robin Duelen ◽  
...  
Keyword(s):  
Muscle Strength ◽  
Protein Deficiency ◽  
Related Protein ◽  
Calpain 3

scholarly journals Muscle Protein Alterations in LGMD2I Patients With Different Mutations in the Fukutin-related Protein Gene

2008 ◽  
Vol 56 (11) ◽  
pp. 995-1001 ◽  
Author(s):  
Lydia U. Yamamoto ◽  
Fernando J. Velloso ◽  
Bruno L. Lima ◽  
Luciana L.Q. Fogaça ◽  
Flávia de Paula ◽  
...  
Keyword(s):  
Muscle Protein ◽  
Congenital Muscular Dystrophy ◽  
Clinical Severity ◽  
Variable Degree ◽  
Related Protein ◽  
Collagen Vi ◽  
Rimmed Vacuoles ◽  
Calpain 3 ◽  
Protein Alterations ◽  
Muscle Biopsies

Fukutin-related protein (FKRP) is a protein involved in the glycosylation of cell surface molecules. Pathogenic mutations in the FKRP gene cause both the more severe congenital muscular dystrophy Type 1C and the milder Limb-Girdle Type 2I form (LGMD2I). Here we report muscle histological alterations and the analysis of 11 muscle proteins: dystrophin, four sarcoglycans, calpain 3, dysferlin, telethonin, collagen VI, α-DG, and α2-laminin, in muscle biopsies from 13 unrelated LGMD2I patients with 10 different FKRP mutations. In all, a typical dystrophic pattern was observed. In eight patients, a high frequency of rimmed vacuoles was also found. A variable degree of α2-laminin deficiency was detected in 12 patients through immunofluorescence analysis, and 10 patients presented α-DG deficiency on sarcolemmal membranes. Additionally, through Western blot analysis, deficiency of calpain 3 and dystrophin bands was found in four and two patients, respectively. All the remaining proteins showed a similar pattern to normal controls. These results suggest that, in our population of LGMD2I patients, different mutations in the FKRP gene are associated with several secondary muscle protein reductions, and the deficiencies of α2-laminin and α-DG on sections are prevalent, independently of mutation type or clinical severity.

Limb girdle muscular dystrophy type 2I, fukutin-related protein deficiency

2013 ◽  
pp. 122-124
Author(s):  
John H. J. Wokke ◽  
Pieter A. van Doorn ◽  
Jessica E. Hoogendijk ◽  
Marianne de Visser
Keyword(s):  
Muscular Dystrophy ◽  
Protein Deficiency ◽  
Limb Girdle Muscular Dystrophy ◽  
Related Protein

scholarly journals Adrenoleukodystrophy-Related Protein Can Compensate Functionally for Adrenoleukodystrophy Protein Deficiency (X-ALD): Implications for Therapy

1999 ◽  
Vol 8 (5) ◽  
pp. 907-913 ◽  
Author(s):  
A. Netik ◽  
S. Forss-Petter ◽  
A. Holzinger ◽  
B. Molzer ◽  
G. Unterrainer ◽  
...  
Keyword(s):  
Protein Deficiency ◽  
Related Protein

Alterations in Serum Diastase and Albumin Values in Protein Deficiency

1955 ◽  
Vol 28 (4) ◽  
pp. 550-562 ◽  
Author(s):  
James F. Sullivan ◽  
Robert J. Healey ◽  
William A. Knight
Keyword(s):  
Protein Deficiency

Absorption of Co58 Labeled Cyanocobalamin in Protein Deficiency

1964 ◽  
Vol 46 (2) ◽  
pp. 167-174 ◽  
Author(s):  
M.G. Deo ◽  
V. Ramalingaswami
Keyword(s):  
Protein Deficiency
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