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The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

American journal of human genetics, 2016-09, Vol.99 (3), p.647-665

2016

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The p97-UBXD8 complex regulates ER-Mitochondria contact sites by altering membrane lipid saturation and composition

Nature communications, 2023-02, Vol.14 (1), p.638-638, Article 638

2023

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Clinorotation inhibits myotube formation by fluid motion, not by simulated microgravity

European journal of cell biology, 2023-06, Vol.102 (2), p.151330-151330, Article 151330

2023

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Immortalised murine R349P desmin knock-in myotubes exhibit a reduced proton leak and decreased ADP/ATP translocase levels in purified mitochondria

European journal of cell biology, 2024-06, Vol.103 (2), p.151399, Article 151399

2024

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Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue

Acta neuropathologica, 2016-09, Vol.132 (3), p.453-473

2016

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Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis

International journal of molecular sciences, 2022-10, Vol.23 (19), p.12020

2022

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Lack of Desmin in Mice Causes Structural and Functional Disorders of Neuromuscular Junctions

Frontiers in molecular neuroscience, 2020-10, Vol.13, p.567084-567084

2020

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VCP suppresses proteopathic seeding in neurons

Molecular neurodegeneration, 2022-04, Vol.17 (1), p.30-30, Article 30

2022

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Early signs of architectural and biomechanical failure in isolated myofibers and immortalized myoblasts from desmin-mutant knock-in mice

Scientific reports, 2017-05, Vol.7 (1), p.1391-14, Article 1391

2017

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Coronin proteins as multifunctional regulators of the cytoskeleton and membrane trafficking

BioEssays, 2005-06, Vol.27 (6), p.625-632

2005

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Functional Characterisation of the Autophagy ATG12~5/16 Complex in Dictyostelium discoideum

Cells (Basel, Switzerland), 2020-05, Vol.9 (5), p.1179

2020

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Growing Old Too Early: Skeletal Muscle Single Fiber Biomechanics in Ageing R349P Desmin Knock-in Mice Using the MyoRobot Technology

International journal of molecular sciences, 2020-07, Vol.21 (15), p.5501

2020

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Advanced Fiber Type-Specific Protein Profiles Derived from Adult Murine Skeletal Muscle

Proteomes, 2021-06, Vol.9 (2), p.28

2021

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Heart failure after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous DES-p.R349P knock-in mice

PloS one, 2020-03, Vol.15 (3), p.e0228913-e0228913

2020

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Correction: Heteromeric p97/p97R155C Complexes Induce Dominant Negative Changes in Wild-Type and Autophagy 9-Deficient Dictyostelium strains

PloS one, 2018, Vol.13 (6), p.e0199548-e0199548

2018

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Proteasomes of Autophagy-Deficient Cells Exhibit Alterations in Regulatory Proteins and a Marked Reduction in Activity

Cells (Basel, Switzerland), 2023-05, Vol.12 (11), p.1514

2023

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Proteasomal activity in skeletal muscle: A matter of assay design, muscle type, and age

Analytical biochemistry, 2010-04, Vol.399 (2), p.225-229

2010

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Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

Acta neuropathologica communications, 2020-09, Vol.8 (1), p.1-154, Article 154

2020

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Expression of N471D strumpellin leads to defects in the endolysosomal system

Disease models & mechanisms, 2018-09, Vol.11 (9)

2018

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Domain Organization of the UBX Domain Containing Protein 9 and Analysis of Its Interactions With the Homohexameric AAA + ATPase p97 (Valosin-Containing Protein)

Frontiers in cell and developmental biology, 2021-09, Vol.9, p.748860-748860

2021

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Identification of the protein kinases Pyk3 and Phg2 as regulators of the STATc-mediated response to hyperosmolarity

PloS one, 2014-02, Vol.9 (2), p.e90025-e90025

2014

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Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases

Brain (London, England : 1878), 2010-10, Vol.133 (10), p.2920-2941

2010

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Coronin 1C-free primary mouse fibroblasts exhibit robust rearrangements in the orientation of actin filaments, microtubules and intermediate filaments

European journal of cell biology, 2016-08, Vol.95 (8), p.239-251

2016

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In vivo characterization of human myofibrillar myopathy genes in zebrafish

Biochemical and biophysical research communications, 2015-05, Vol.461 (2), p.217-223

2015

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Mutant p97 exhibits species-specific changes of its ATPase activity and compromises the UBXD9-mediated monomerisation of p97 hexamers

European journal of cell biology, 2016-06, Vol.95 (6-7), p.195-207

2016

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The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

The p97-UBXD8 complex regulates ER-Mitochondria contact sites by altering membrane lipid saturation and composition

Clinorotation inhibits myotube formation by fluid motion, not by simulated microgravity

Immortalised murine R349P desmin knock-in myotubes exhibit a reduced proton leak and decreased ADP/ATP translocase levels in purified mitochondria

Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue

Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis

Lack of Desmin in Mice Causes Structural and Functional Disorders of Neuromuscular Junctions

VCP suppresses proteopathic seeding in neurons

Early signs of architectural and biomechanical failure in isolated myofibers and immortalized myoblasts from desmin-mutant knock-in mice

Coronin proteins as multifunctional regulators of the cytoskeleton and membrane trafficking

Functional Characterisation of the Autophagy ATG12~5/16 Complex in Dictyostelium discoideum

Growing Old Too Early: Skeletal Muscle Single Fiber Biomechanics in Ageing R349P Desmin Knock-in Mice Using the MyoRobot Technology

Advanced Fiber Type-Specific Protein Profiles Derived from Adult Murine Skeletal Muscle

Heart failure after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous DES-p.R349P knock-in mice

Correction: Heteromeric p97/p97R155C Complexes Induce Dominant Negative Changes in Wild-Type and Autophagy 9-Deficient Dictyostelium strains

Proteasomes of Autophagy-Deficient Cells Exhibit Alterations in Regulatory Proteins and a Marked Reduction in Activity

Proteasomal activity in skeletal muscle: A matter of assay design, muscle type, and age

Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation

Expression of N471D strumpellin leads to defects in the endolysosomal system

Domain Organization of the UBX Domain Containing Protein 9 and Analysis of Its Interactions With the Homohexameric AAA + ATPase p97 (Valosin-Containing Protein)

Identification of the protein kinases Pyk3 and Phg2 as regulators of the STATc-mediated response to hyperosmolarity

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases

Coronin 1C-free primary mouse fibroblasts exhibit robust rearrangements in the orientation of actin filaments, microtubules and intermediate filaments

In vivo characterization of human myofibrillar myopathy genes in zebrafish

Mutant p97 exhibits species-specific changes of its ATPase activity and compromises the UBXD9-mediated monomerisation of p97 hexamers

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