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VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

Autophagy, 2010-02, Vol.6 (2), p.217-227

2010

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VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease

PloS one, 2010-10, Vol.5 (10), p.e13183

2010

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Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

Human molecular genetics, 2002-04, Vol.11 (8), p.885-891

2002

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Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts

Neuromuscular disorders : NMD, 2009-11, Vol.19 (11), p.766-772

2009

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Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin

Data in brief, 2016-09, Vol.8, p.741-749

2016

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A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging

Human molecular genetics, 2004-12, Vol.13 (23), p.2893-2906

2004

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Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Nature (London), 1995-08, Vol.376 (6541), p.584-587

1995

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Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1

Human molecular genetics, 2005-06, Vol.14 (11), p.1475-1488

2005

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VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: Review of a unique disorder

Biochimica et biophysica acta, 2008-12, Vol.1782 (12), p.744-748

2008

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Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins

Current molecular medicine, 2002-08, Vol.2 (5), p.439

2002

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p75 Reduces TrkB Tyrosine Autophosphorylation in Response to Brain-derived Neurotrophic Factor and Neurotrophin 4/5

The Journal of biological chemistry, 2000-08, Vol.275 (32), p.24414-24420

2000

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Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments

Cellular and molecular life sciences : CMLS, 2012-06, Vol.69 (12), p.2075-2089

2012

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The Multiple Faces of Valosin-Containing Protein-Associated Diseases: Inclusion Body Myopathy with Paget’s Disease of Bone, Frontotemporal Dementia, and Amyotrophic Lateral Sclerosis

Journal of molecular neuroscience, 2011-11, Vol.45 (3), p.522-531

2011

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Increased HIV-1 superinfection risk in carriers of specific human leukocyte antigen alleles

AIDS (London), 2017-05, Vol.31 (8), p.1149-1158

2017

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A progressive translational mouse model of human valosin-containing protein disease: the VCP(R155H/+) mouse

Muscle & nerve, 2013-02, Vol.47 (2), p.260-270

2013

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A progressive translational mouse model of human valosin-containing protein disease: The VCPR155H/+ mouse

Muscle & nerve, 2013-02, Vol.47 (2), p.260-270

2013

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In vitro studies in VCP-associated multisystem proteinopathy suggest altered mitochondrial bioenergetics

Mitochondrion, 2015-05, Vol.22, p.1-8

2015

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Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome

Neuroscience letters, 2011-01, Vol.487 (2), p.129-133

2011

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Mice with Ppt1Δex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons

Neurobiology of disease, 2005-02, Vol.18 (1), p.226-241

2005

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GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L

American journal of human genetics, 2002-10, Vol.71 (4), p.863-876

2002

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Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells

Molecular biology of the cell, 2004-03, Vol.15 (3), p.1313-1323

2004

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Global Gene Expression Profiling in R155H Knock-In Murine Model of VCP Disease: Expression Profiling in VCP Disease

Clinical and translational science, 2015-02, Vol.8 (1), p.8-16

2015

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Mice with Ppt1 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons

Neurobiology of disease, 2005-02, Vol.18 (1), p.226-241

2005

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A progressive translational mouse model of human valosin‐containing protein disease: The VCP R155H/+ mouse

Muscle & nerve, 2013-02, Vol.47 (2), p.260-270

2013

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Global Gene Expression Profiling in R155H Knock‐In Murine Model of VCP Disease

Clinical and translational science, 2015-02, Vol.8 (1), p.8-16

2015

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VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts

Data on characterizing the gene expression patterns of neuronal ceroid lipofuscinosis genes: CLN1, CLN2, CLN3, CLN5 and their association to interneuron and neurotransmission markers: Parvalbumin and Somatostatin

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1

VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: Review of a unique disorder

Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins

p75 Reduces TrkB Tyrosine Autophosphorylation in Response to Brain-derived Neurotrophic Factor and Neurotrophin 4/5

Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments

The Multiple Faces of Valosin-Containing Protein-Associated Diseases: Inclusion Body Myopathy with Paget’s Disease of Bone, Frontotemporal Dementia, and Amyotrophic Lateral Sclerosis

Increased HIV-1 superinfection risk in carriers of specific human leukocyte antigen alleles

A progressive translational mouse model of human valosin-containing protein disease: the VCP(R155H/+) mouse

A progressive translational mouse model of human valosin-containing protein disease: The VCPR155H/+ mouse

In vitro studies in VCP-associated multisystem proteinopathy suggest altered mitochondrial bioenergetics

Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome

Mice with Ppt1Δex4 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons

GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L

Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells

Global Gene Expression Profiling in R155H Knock-In Murine Model of VCP Disease: Expression Profiling in VCP Disease

Mice with Ppt1 mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons

A progressive translational mouse model of human valosin‐containing protein disease: The VCP R155H/+ mouse

Global Gene Expression Profiling in R155H Knock‐In Murine Model of VCP Disease

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