Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I

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Standard

Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. / Torelli, Silvia; Brown, Susan C; Brockington, Martin; Dolatshad, Nazanin F; Jimenez, Cecilia; Skordis, Leigh; Feng, Lucy H; Merlini, Luciano; Jones, David Hilton; Romero, Norma; Wewer, Ulla; Voit, Thomas; Sewry, Caroline A; Noguchi, Satoru; Nishino, Ichizo; Muntoni, Francesco.

I: Neuromuscular Disorders, Bind 15, Nr. 12, 01.12.2005, s. 836-43.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Torelli, S, Brown, SC, Brockington, M, Dolatshad, NF, Jimenez, C, Skordis, L, Feng, LH, Merlini, L, Jones, DH, Romero, N, Wewer, U, Voit, T, Sewry, CA, Noguchi, S, Nishino, I & Muntoni, F 2005, 'Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I', Neuromuscular Disorders, bind 15, nr. 12, s. 836-43. https://doi.org/10.1016/j.nmd.2005.09.004

APA

Torelli, S., Brown, S. C., Brockington, M., Dolatshad, N. F., Jimenez, C., Skordis, L., Feng, L. H., Merlini, L., Jones, D. H., Romero, N., Wewer, U., Voit, T., Sewry, C. A., Noguchi, S., Nishino, I., & Muntoni, F. (2005). Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. Neuromuscular Disorders, 15(12), 836-43. https://doi.org/10.1016/j.nmd.2005.09.004

Vancouver

Torelli S, Brown SC, Brockington M, Dolatshad NF, Jimenez C, Skordis L o.a. Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. Neuromuscular Disorders. 2005 dec. 1;15(12):836-43. https://doi.org/10.1016/j.nmd.2005.09.004

Author

Torelli, Silvia ; Brown, Susan C ; Brockington, Martin ; Dolatshad, Nazanin F ; Jimenez, Cecilia ; Skordis, Leigh ; Feng, Lucy H ; Merlini, Luciano ; Jones, David Hilton ; Romero, Norma ; Wewer, Ulla ; Voit, Thomas ; Sewry, Caroline A ; Noguchi, Satoru ; Nishino, Ichizo ; Muntoni, Francesco. / Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. I: Neuromuscular Disorders. 2005 ; Bind 15, Nr. 12. s. 836-43.

Bibtex

@article{5d31f64cd3ca49ab983506b6a3c59060,
title = "Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I",
abstract = "MDC1C and LGMD2I are two allelic forms of muscular dystrophies caused by mutations in the gene encoding for fukutin related protein (FKRP). FKRP encodes for a putative glycosyltransferase, the precise function of which is unknown. However, the marked reduction of alpha-dystroglycan glycosylation in the muscle of MDC1C and LGMD2I patients suggests a role for FKRP in dystroglycan processing. Using a polyclonal antibody raised against FKRP we now show that endogenous FKRP locates to the Golgi apparatus of neuronal, oligodendroglial, and the cardiac muscle cell line H9c2. In differentiated C2C12 myotubes and in transverse sections of normal skeletal and cardiac muscle, endogenous FKRP surrounded the myonuclei. This localisation was unaffected in the skeletal muscle of patients with MDC1C and LGMD2I carrying various FKRP mutations. These observations imply a specific role for FKRP during striated muscle, neuronal and glial development and suggest that protein mis-localisation is not a common mechanism of disease in FKRP-related dystrophies.",
keywords = "Animals, Autoantigens, Blotting, Western, Cell Line, Desmin, Fetus, Golgi Apparatus, Humans, Immunohistochemistry, Membrane Proteins, Mice, Muscle, Skeletal, Muscular Dystrophies, Mutation, Myoblasts, Neuroblastoma, Neurons, Proteins, Rats, Subcellular Fractions",
author = "Silvia Torelli and Brown, {Susan C} and Martin Brockington and Dolatshad, {Nazanin F} and Cecilia Jimenez and Leigh Skordis and Feng, {Lucy H} and Luciano Merlini and Jones, {David Hilton} and Norma Romero and Ulla Wewer and Thomas Voit and Sewry, {Caroline A} and Satoru Noguchi and Ichizo Nishino and Francesco Muntoni",
year = "2005",
month = dec,
day = "1",
doi = "10.1016/j.nmd.2005.09.004",
language = "English",
volume = "15",
pages = "836--43",
journal = "Journal of Neuromuscular Diseases",
issn = "0960-8966",
publisher = "Elsevier",
number = "12",

}

RIS

TY - JOUR

T1 - Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I

AU - Torelli, Silvia

AU - Brown, Susan C

AU - Brockington, Martin

AU - Dolatshad, Nazanin F

AU - Jimenez, Cecilia

AU - Skordis, Leigh

AU - Feng, Lucy H

AU - Merlini, Luciano

AU - Jones, David Hilton

AU - Romero, Norma

AU - Wewer, Ulla

AU - Voit, Thomas

AU - Sewry, Caroline A

AU - Noguchi, Satoru

AU - Nishino, Ichizo

AU - Muntoni, Francesco

PY - 2005/12/1

Y1 - 2005/12/1

N2 - MDC1C and LGMD2I are two allelic forms of muscular dystrophies caused by mutations in the gene encoding for fukutin related protein (FKRP). FKRP encodes for a putative glycosyltransferase, the precise function of which is unknown. However, the marked reduction of alpha-dystroglycan glycosylation in the muscle of MDC1C and LGMD2I patients suggests a role for FKRP in dystroglycan processing. Using a polyclonal antibody raised against FKRP we now show that endogenous FKRP locates to the Golgi apparatus of neuronal, oligodendroglial, and the cardiac muscle cell line H9c2. In differentiated C2C12 myotubes and in transverse sections of normal skeletal and cardiac muscle, endogenous FKRP surrounded the myonuclei. This localisation was unaffected in the skeletal muscle of patients with MDC1C and LGMD2I carrying various FKRP mutations. These observations imply a specific role for FKRP during striated muscle, neuronal and glial development and suggest that protein mis-localisation is not a common mechanism of disease in FKRP-related dystrophies.

AB - MDC1C and LGMD2I are two allelic forms of muscular dystrophies caused by mutations in the gene encoding for fukutin related protein (FKRP). FKRP encodes for a putative glycosyltransferase, the precise function of which is unknown. However, the marked reduction of alpha-dystroglycan glycosylation in the muscle of MDC1C and LGMD2I patients suggests a role for FKRP in dystroglycan processing. Using a polyclonal antibody raised against FKRP we now show that endogenous FKRP locates to the Golgi apparatus of neuronal, oligodendroglial, and the cardiac muscle cell line H9c2. In differentiated C2C12 myotubes and in transverse sections of normal skeletal and cardiac muscle, endogenous FKRP surrounded the myonuclei. This localisation was unaffected in the skeletal muscle of patients with MDC1C and LGMD2I carrying various FKRP mutations. These observations imply a specific role for FKRP during striated muscle, neuronal and glial development and suggest that protein mis-localisation is not a common mechanism of disease in FKRP-related dystrophies.

KW - Animals

KW - Autoantigens

KW - Blotting, Western

KW - Cell Line

KW - Desmin

KW - Fetus

KW - Golgi Apparatus

KW - Humans

KW - Immunohistochemistry

KW - Membrane Proteins

KW - Mice

KW - Muscle, Skeletal

KW - Muscular Dystrophies

KW - Mutation

KW - Myoblasts

KW - Neuroblastoma

KW - Neurons

KW - Proteins

KW - Rats

KW - Subcellular Fractions

U2 - 10.1016/j.nmd.2005.09.004

DO - 10.1016/j.nmd.2005.09.004

M3 - Journal article

C2 - 16288869

VL - 15

SP - 836

EP - 843

JO - Journal of Neuromuscular Diseases

JF - Journal of Neuromuscular Diseases

SN - 0960-8966

IS - 12

ER -

ID: 34325120