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

The Endoplasmic Reticulum Chaperone Calnexin Is a NADPH Oxidase NOX4 Interacting Protein

(2016) Kim-Kristin Prior et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neuromuscular endplate pathology in recessive desminopathies

(2016) Hacer Durmuş et al.   NEUROLOGY

Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy

(2016) Lilli Winter et al.   Acta Neuropathologica Communications

New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses

(2016) A. Maerkens et al.   Acta Neuropathologica Communications

Mitochondrial DNA mutations in neurodegeneration

(2015) Michael J. Keogh et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Oxidative stress, mitochondrial dysfunction and neurodegenerative diseases; a mechanistic insight

(2015) Aashiq Hussain Bhat et al.   BIOMEDICINE & PHARMACOTHERAPY

Mitochondrial abnormalities in the myofibrillar myopathies

(2015) S. Jackson et al.   EUROPEAN JOURNAL OF NEUROLOGY

Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle

(2015) Lilli Winter et al.   HUMAN MOLECULAR GENETICS

Myofibrillar instability exacerbated by acute exercise in filaminopathy

(2015) Frédéric Chevessier et al.   HUMAN MOLECULAR GENETICS

PIA: An Intuitive Protein Inference Engine with a Web-Based User Interface

(2015) Julian Uszkoreit et al.   JOURNAL OF PROTEOME RESEARCH

Mitochondrial iron homeostasis and its dysfunctions in neurodegenerative disorders

(2015) Natalia P. Mena et al.   MITOCHONDRION

Mitochondrial reticulum for cellular energy distribution in muscle

(2015) Brian Glancy et al.   NATURE

Low-bias phosphopeptide enrichment from scarce samples using plastic antibodies

(2015) Jing Chen et al.   Scientific Reports

Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA

(2015) Elizabeth M. McCormick et al.   Frontiers in Genetics

The toxic effect of R350P mutant desmin in striated muscle of man and mouse

(2014) Christoph S. Clemen et al.   ACTA NEUROPATHOLOGICA

Three-dimensional reconstruction of the human skeletal muscle mitochondrial network as a tool to assess mitochondrial content and structural organization

(2014) R. Dahl et al.   Acta Physiologica

Impaired mitochondrial homeostasis and neurodegeneration: towards new therapeutic targets?

(2014) Juan Carlos Corona et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Accurate Proteome-wide Label-free Quantification by Delayed Normalization and Maximal Peptide Ratio Extraction, Termed MaxLFQ

(2014) Jürgen Cox et al.   MOLECULAR & CELLULAR PROTEOMICS

Disturbed mitochondrial dynamics and neurodegenerative disorders

(2014) Florence Burté et al.   Nature Reviews Neurology

Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities

(2013) Matthew Henderson et al.   ACTA NEUROPATHOLOGICA

Mitochondrial Respiratory Supercomplex Association Limits Production of Reactive Oxygen Species from Complex I

(2013) Evelina Maranzana et al.   ANTIOXIDANTS & REDOX SIGNALING

Functional role of mitochondrial respiratory supercomplexes

(2013) Maria Luisa Genova et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Structures of mitochondrial oxidative phosphorylation supercomplexes and mechanisms for their stabilisation

(2013) Yuriy Chaban et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Mitochondrial genome changes and neurodegenerative diseases

(2013) Milena Pinto et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Compound heterozygosity of predicted loss-of-function DESvariants in a family with recessive desminopathy

(2013) Heather M McLaughlin et al.   BMC Medical Genetics

Mitochondrial abnormalities in myofibrillar myopathies

(2013) Pushpa R. Joshi et al.   CLINICAL NEUROPATHOLOGY

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies

(2013) Nilgun Cetin et al.   JOURNAL OF MEDICAL GENETICS

Skeletal Muscle Biopsy Analysis in Reducing Body Myopathy and Other FHL1-Related Disorders

(2013) Edoardo Malfatti et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Mitochondrial Dysfunction in Neuromuscular Disorders

(2013) Christos D. Katsetos et al.   Seminars in Pediatric Neurology

Protein aggregate myopathies: the many faces of an expanding disease group

(2012) Rolf Schröder   ACTA NEUROPATHOLOGICA

Desminopathies: pathology and mechanisms

(2012) Christoph S. Clemen et al.   ACTA NEUROPATHOLOGICA

Oxidation of the cysteine-rich regions of parkin perturbs its E3 ligase activity and contributes to protein aggregation

(2011) Fanjun Meng et al.   Molecular Neurodegeneration

A novel heterozygous deletion–insertion mutation (2695–2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family

(2010) Xinghua Luan et al.   NEUROMUSCULAR DISORDERS

Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain

(2010) Luis Vernengo et al.   NEUROMUSCULAR DISORDERS

A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene

(2010) D. Hong et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Large pore gels to separate mega protein complexes larger than 10 MDa by blue native electrophoresis: Isolation of putative respiratory strings or patches

(2010) Valentina Strecker et al.   PROTEOMICS

Abnormal mitochondrial dynamics and neurodegenerative diseases

(2009) Bo Su et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments

(2009) S. A. Bustin et al.   CLINICAL CHEMISTRY

G.O.7 A homozygous desmin deletion causes an Emery-Dreifuss like recessive myopathy with desmin depletion

(2009) V. Carmignac et al.   NEUROMUSCULAR DISORDERS

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin

(2009) Gerard Piñol-Ripoll et al.   NEUROMUSCULAR DISORDERS

Two-dimensional native electrophoretic analysis of respiratory supercomplexes from Yarrowia lipolytica

(2009) Esther Nübel et al.   PROTEOMICS

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy

(2008) Christoph S. Clemen et al.   HUMAN MUTATION

Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondria

(2008) Anna Kostareva et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Clonally Expanded Mitochondrial DNA Mutations in Epileptic Individuals With Mutated DNA Polymerase γ

(2008) Gábor Zsurka et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification

(2008) Jürgen Cox et al.   NATURE BIOTECHNOLOGY