MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet (Q24319122)

Agrin

1 reference

Dystroglycan 1

1 reference

protein-containing complex binding

1 reference

author

Francesco Muntoni

10

0 references

Kevin E. Bove

8

Kevin E Bove

0 references

Jack van Horssen

6

Jack van Horssen

0 references

Gert C Scheper

12

Gert C Scheper

0 references

Ilja Boor

1

Ilja Boor

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author name string

Machiel Nagtegaal

2

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Wouter Kamphorst

3

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Paul van der Valk

4

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Jan C Pronk

5

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Argirios Dinopoulos

7

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Ignacio Pascual-Castroviejo

9

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Raúl Estévez

11

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Marjo S van der Knaap

https://scigraph.springernature.com/pub.10.1007/s00401-007-0247-0

13

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language of work or name

English

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publication date

October 2007

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published in

Acta Neuropathologica

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volume

114

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page(s)

403-10

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issue

4

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exact match

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cites work

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Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cysts

19 March 2017

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Diversity of the Brain Dystrophin-Glycoprotein Complex.

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Syntrophin-dependent expression and localization of Aquaporin-4 water channel protein

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Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

19 March 2017

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Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

19 March 2017

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Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

19 March 2017

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Aquaporin-4 in the central nervous system: cellular and subcellular distribution and coexpression with KIR4.1

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Dystroglycan in the cerebellum is a laminin alpha 2-chain binding protein at the glial-vascular interface and is expressed in Purkinje cells

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Childhood white matter disorders: quantitative MR imaging and spectroscopy

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Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.

27 September 2017

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Defective glycosylation in congenital muscular dystrophies

27 September 2017

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Proteasome inhibitor (MG-132) treatment of mdx mice rescues the expression and membrane localization of dystrophin and dystrophin-associated proteins

27 September 2017

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Merosin, a protein specific for basement membranes of Schwann cells, striated muscle, and trophoblast, is expressed late in nerve and muscle development

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Redistribution of the water channel protein aquaporin-4 and the K+ channel protein Kir4.1 differs in low- and high-grade human brain tumors

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Redistribution of aquaporin-4 in human glioblastoma correlates with loss of agrin immunoreactivity from brain capillary basal laminae

30 May 2018

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Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

30 May 2018

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Deficiency of syntrophin, dystroglycan, and merosin in a female infant with a congenital muscular dystrophy phenotype lacking cysteine-rich and C-terminal domains of dystrophin.

30 May 2018

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Expression of alpha-dystrobrevin in blood-tissue barriers: sub-cellular localisation and molecular characterisation in normal and dystrophic mice.

21 January 2018

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Glia-specific activation of all pathways of the unfolded protein response in vanishing white matter disease.

29 November 2018

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The potassium channel Kir4.1 associates with the dystrophin-glycoprotein complex via alpha-syntrophin in glia

29 November 2018

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Fukuyama muscular dystrophy associated with lack of C-terminal domain of dystrophin

29 November 2018

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Dystroglycan distribution in adult mouse brain: a light and electron microscopy study

29 November 2018

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Isolation and characterization of adult microglial cells and oligodendrocytes derived from postmortem human brain tissue.

29 November 2018

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Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course.

29 November 2018

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Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

29 November 2018

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