Cellular Signature of SIL1 Depletion: Disease Pathogenesis due to Alterations in Protein Composition Beyond the ER Machinery

Exploring new pathways of neurodegeneration in ALS: The role of mitochondria quality control

(2015) Gloria M. Palomo et al.   BRAIN RESEARCH

SIL1 Rescued Bip Elevation-Related Tau Hyperphosphorylation in ER Stress

(2015) Zan-Chao Liu et al.   MOLECULAR NEUROBIOLOGY

Marinesco-Sjögren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS

(2015) Audrey Filézac de L'Etang et al.   NATURE NEUROSCIENCE

Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration

(2014) Matthis Synofzik et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microtubule-stabilizing agents as potential therapeutics for neurodegenerative disease

(2014) Kurt R. Brunden et al.   BIOORGANIC & MEDICINAL CHEMISTRY

What Can Proteomics Tell Us About Platelets?

(2014) Julia M. Burkhart et al.   CIRCULATION RESEARCH

SIL1, a causative cochaperone gene of Marinesco-Sjogren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex

(2014) Y. Inaguma et al.   EMBO Molecular Medicine

Bcl-2 Decreases the Affinity of SQSTM1/p62 to Poly-Ubiquitin Chains and Suppresses the Aggregation of Misfolded Protein in Neurodegenerative Disease

(2014) Liang Zhou et al.   MOLECULAR NEUROBIOLOGY

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models

(2014) Sami J Barmada et al.   Nature Chemical Biology

Deregulated expression of cytoskeleton related genes in the spinal cord and sciatic nerve of presymptomatic SOD1G93A Amyotrophic Lateral Sclerosis mouse model

(2014) Jessica R. Maximino et al.   Frontiers in Cellular Neuroscience

The ER mitochondria calcium cycle and ER stress response as therapeutic targets in amyotrophic lateral sclerosis

(2014) Vedrana Tadic et al.   Frontiers in Cellular Neuroscience

Golgi fragmentation precedes neuromuscular denervation and is associated with endosome abnormalities in SOD1-ALS mouse motor neurons

(2014) Vera van Dis et al.   Acta Neuropathologica Communications

Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant

(2014) Takashi Ayaki et al.   Acta Neuropathologica Communications

Myopathy in Marinesco–Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology

(2013) Andreas Roos et al.   ACTA NEUROPATHOLOGICA

The endoplasmic reticulum–mitochondria connection: One touch, multiple functions

(2013) Saverio Marchi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

(2013) Michael Krieger et al.   BRAIN

Hdac6 deletion delays disease progression in the SOD1G93A mouse model of ALS

(2013) Ines Taes et al.   HUMAN MOLECULAR GENETICS

Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis

(2013) J. Prause et al.   HUMAN MOLECULAR GENETICS

HDAC6 Regulates Mutant SOD1 Aggregation through Two SMIR Motifs and Tubulin Acetylation

(2013) Jozsef Gal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neurotrophins and Neurotrophin Receptors in Proliferative Diabetic Retinopathy

(2013) Ahmed M. Abu El-Asrar et al.   PLoS One

ALG-2 Attenuates COPII Budding In Vitro and Stabilizes the Sec23/Sec31A Complex

(2013) Jonas M. la Cour et al.   PLoS One

An Actin-Dependent Step in Mitochondrial Fission Mediated by the ER-Associated Formin INF2

(2013) F. Korobova et al.   SCIENCE

Amyotrophic lateral sclerosis (ALS)-associated VAPB-P56S inclusions represent an ER quality control compartment

(2013) Marijn Kuijpers et al.   Acta Neuropathologica Communications

The ER in 4D: a novel stress pathway controlling endoplasmic reticulum membrane remodeling

(2012) H Urra et al.   CELL DEATH AND DIFFERENTIATION

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality

(2012) Bastian Ackermann et al.   HUMAN MOLECULAR GENETICS

C-terminal Mutations Destabilize SIL1/BAP and Can Cause Marinesco-Sjögren Syndrome

(2012) Jennifer Howes et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ablation of Vacuole Protein Sorting 18 (Vps18) Gene Leads to Neurodegeneration and Impaired Neuronal Migration by Disrupting Multiple Vesicle Transport Pathways to Lysosomes

(2012) Chao Peng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect

(2012) Duvinh Tran et al.   JOURNAL OF CELL SCIENCE

Targeted Proteomic Quantification on Quadrupole-Orbitrap Mass Spectrometer

(2012) Sebastien Gallien et al.   MOLECULAR & CELLULAR PROTEOMICS

STRING v9.1: protein-protein interaction networks, with increased coverage and integration

(2012) Andrea Franceschini et al.   NUCLEIC ACIDS RESEARCH

Cloning and Functional Analysis of FLJ20420: A Novel Transcription Factor for the BAG-1 Promoter

(2012) Hongyu Liu et al.   PLoS One

The Mitochondrial Chaperone Protein TRAP1 Mitigates α-Synuclein Toxicity

(2012) Erin K. Butler et al.   PLoS Genetics

Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion

(2011) Natalie M. Gallant et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Structural analysis of the Sil1–Bip complex reveals the mechanism for Sil1 to function as a nucleotide-exchange factor

(2011) Ming Yan et al.   BIOCHEMICAL JOURNAL

Autophagy and BiP level decrease are early key events in retrograde degeneration of motoneurons

(2011) C Penas et al.   CELL DEATH AND DIFFERENTIATION

Alteration of the proteome profile of the pancreas in diabetic rats induced by streptozotocin

(2011) Yong-Qing Yang   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Proteins That Bind to Misfolded Mutant Superoxide Dismutase-1 in Spinal Cords from Transgenic Amyotrophic Lateral Sclerosis (ALS) Model Mice

(2011) Per Zetterström et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Unfolded proteins and endoplasmic reticulum stress in neurodegenerative disorders

(2011) Karen M. Doyle et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Sensory-motor deficits and neurofilament disorganization in gigaxonin-null mice

(2011) Thibault Ganay et al.   Molecular Neurodegeneration

Substrate discrimination of the chaperone BiP by autonomous and cochaperone-regulated conformational transitions

(2011) Moritz Marcinowski et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Loss of glial fibrillary acidic protein marginally accelerates disease progression in a SOD1H46R transgenic mouse model of ALS

(2011) Yasuhiro Yoshii et al.   NEUROSCIENCE RESEARCH

A role of small heat shock protein B8 (HspB8) in the autophagic removal of misfolded proteins responsible for neurodegenerative diseases

(2010) Valeria Crippa et al.   Autophagy

Native GABAB receptors are heteromultimers with a family of auxiliary subunits

(2010) Jochen Schwenk et al.   NATURE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Relationship between urinary sodium excretion and pioglitazone-induced edema

(2010) Akinobu Nakamura et al.   Journal of Diabetes Investigation

Essential role of the unfolded protein response regulator GRP78/BiP in protection from neuronal apoptosis

(2009) M Wang et al.   CELL DEATH AND DIFFERENTIATION

Functions and pathologies of BiP and its interaction partners

(2009) J. Dudek et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco–Sjögren syndrome

(2009) Lihong Zhao et al.   HUMAN MOLECULAR GENETICS

ER Stress and Unfolded Protein Response in Amyotrophic Lateral Sclerosis

(2009) Kohsuke Kanekura et al.   MOLECULAR NEUROBIOLOGY

The RKIP (Raf-1 Kinase Inhibitor Protein) conserved pocket binds to the phosphorylated N-region of Raf-1 and inhibits the Raf-1-mediated activated phosphorylation of MEK

(2008) Oliver Rath et al.   CELLULAR SIGNALLING

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome

(2008) Anna-Kaisa Anttonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS