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MLC1 protein: a likely link between leukodystrophies and brain channelopathies

Frontiers in cellular neuroscience, 2015-04, Vol.9, p.66-66

2015

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Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

Human molecular genetics, 2008-07, Vol.17 (13), p.2018-2029

2008

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Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: Relevance to MLC disease pathogenesis

Neurobiology of disease, 2014-06, Vol.66 (100), p.1-18

2014

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Retinoblastoma-independent antiproliferative activity of novel intracellular antibodies against the E7 oncoprotein in HPV 16-positive cells

BMC cancer, 2011-01, Vol.11 (1), p.17-17, Article 17

2011

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Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

American journal of human genetics, 2006-02, Vol.78 (2), p.279-290

2006

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Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations

Human molecular genetics, 2012-05, Vol.21 (10), p.2166-2180

2012

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The beta 1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis

Human molecular genetics, 2011-01, Vol.20 (1), p.90-103

2011

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Altered expression of alpha-dystroglycan subunit in human gliomas

Cancer biology & therapy, 2006-04, Vol.5 (4), p.441-448

2006

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The β1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis

Human molecular genetics, 2011-01, Vol.20 (1), p.90-103

2011

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Peroxynitrite affects exocytosis and SNARE complex formation and induces tyrosine nitration of synaptic proteins

Journal of neurochemistry, 2002-07, Vol.82 (2), p.420-429

2002

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Astrocytes: Emerging stars in leukodystrophy pathogenesis

Translational neuroscience, 2013-06, Vol.4 (2), p.144-164

2013

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Early effects of high glucose in retinal tissue cultures

Neurobiology of disease, 2009-08, Vol.35 (2), p.278-285

2009

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The Interaction with HMG20a/b Proteins Suggests a Potential Role for β-Dystrobrevin in Neuronal Differentiation

The Journal of biological chemistry, 2010-08, Vol.285 (32), p.24740-24750

2010

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Dystroglycan is associated to the disulfide isomerase ERp57

Experimental cell research, 2012-11, Vol.318 (19), p.2460-2469

2012

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Developmental expression of dysbindin in Muller cells of rat retina

Experimental eye research, 2013-11, Vol.116, p.1-8

2013

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Axotomy of Sympathetic Neurons Activates the Metalloproteinase-2 Enzymatic Pathway

Journal of neuropathology and experimental neurology, 2005-11, Vol.64 (11), p.1007-1017

2005

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Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis

DNA repair, 2010-06, Vol.9 (6), p.700-707

2010

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Phosphorylation on threonine 11 of β‐dystrobrevin alters its interaction with kinesin heavy chain

The FEBS journal, 2012-11, Vol.279 (22), p.4131-4144

2012

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β-dystrobrevin, a kinesin-binding receptor, interacts with the extracellular matrix components pancortins

Journal of neuroscience research, 2007-09, Vol.85 (12), p.2631-2639

2007

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Association of Dystrobrevin and Regulatory Subunit of Protein Kinase A: A New Role for Dystrobrevin as a Scaffold for Signaling Proteins

Journal of molecular biology, 2007-08, Vol.371 (5), p.1174-1187

2007

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Early effects of high glucose in retinal tissue cultures Renin-Angiotensin system-dependent and -independent signaling

Neurobiology of disease, 2009-08, Vol.35 (2), p.278-285

2009

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Concerted mutation of Phe residues belonging to the β‐dystroglycan ectodomain strongly inhibits the interaction with α‐dystroglycan in vitro

The FEBS journal, 2006-11, Vol.273 (21), p.4929-4943

2006

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Anomalous dystroglycan in carcinoma cell lines

FEBS letters, 2000-11, Vol.484 (3), p.194-198

2000

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Peroxynitrite Induces Tyrosine Nitration and Modulates Tyrosine Phosphorylation of Synaptic Proteins

Journal of neurochemistry, 1999-08, Vol.73 (2), p.727-735

1999

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Protein 4.1 and its interaction with other cytoskeletal proteins in Xenopus laevis oogenesis

European journal of cell biology, 2009-06, Vol.88 (6), p.343-356

2009

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MLC1 protein: a likely link between leukodystrophies and brain channelopathies

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: Relevance to MLC disease pathogenesis

Retinoblastoma-independent antiproliferative activity of novel intracellular antibodies against the E7 oncoprotein in HPV 16-positive cells

Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations

The beta 1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis

Altered expression of alpha-dystroglycan subunit in human gliomas

The β1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis

Peroxynitrite affects exocytosis and SNARE complex formation and induces tyrosine nitration of synaptic proteins

Astrocytes: Emerging stars in leukodystrophy pathogenesis

Early effects of high glucose in retinal tissue cultures

The Interaction with HMG20a/b Proteins Suggests a Potential Role for β-Dystrobrevin in Neuronal Differentiation

Dystroglycan is associated to the disulfide isomerase ERp57

Developmental expression of dysbindin in Muller cells of rat retina

Axotomy of Sympathetic Neurons Activates the Metalloproteinase-2 Enzymatic Pathway

Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis

Phosphorylation on threonine 11 of β‐dystrobrevin alters its interaction with kinesin heavy chain

β-dystrobrevin, a kinesin-binding receptor, interacts with the extracellular matrix components pancortins

Association of Dystrobrevin and Regulatory Subunit of Protein Kinase A: A New Role for Dystrobrevin as a Scaffold for Signaling Proteins

Early effects of high glucose in retinal tissue cultures Renin-Angiotensin system-dependent and -independent signaling

Concerted mutation of Phe residues belonging to the β‐dystroglycan ectodomain strongly inhibits the interaction with α‐dystroglycan in vitro

Anomalous dystroglycan in carcinoma cell lines

Peroxynitrite Induces Tyrosine Nitration and Modulates Tyrosine Phosphorylation of Synaptic Proteins

Protein 4.1 and its interaction with other cytoskeletal proteins in Xenopus laevis oogenesis

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