Rare Inherited forms of Paget’s Disease and Related Syndromes

Paget’s Disease of Bone

(2019) Luigi Gennari et al.   CALCIFIED TISSUE INTERNATIONAL

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

(2018) YouJin Lee et al.   JOURNAL OF CLINICAL INVESTIGATION

Juvenile Paget disease

(2018) Stergios A. Polyzos et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

VCP/p97-Mediated Unfolding as a Principle in Protein Homeostasis and Signaling

(2018) Johannes van den Boom et al.   MOLECULAR CELL

Novel valosin-containing protein mutations associated with multisystem proteinopathy

(2018) Sejad Al-Tahan et al.   NEUROMUSCULAR DISORDERS

Linking hnRNP Function to ALS and FTD Pathology

(2018) Maria D. Purice et al.   Frontiers in Neuroscience

Who's In and Who's Out—Compositional Control of Biomolecular Condensates

(2018) Jonathon A. Ditlev et al.   JOURNAL OF MOLECULAR BIOLOGY

Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease

(2016) Gary S. Gottesman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Control of p97 function by cofactor binding

(2015) Alexander Buchberger et al.   FEBS LETTERS

Unanticipated difficult intubation in a patient with juvenile Paget disease

(2015) Rupali Patnaik et al.   JOURNAL OF CLINICAL ANESTHESIA

SQSTM1splice site mutation in distal myopathy with rimmed vacuoles

(2015) Robert C. Bucelli et al.   NEUROLOGY

Multisystem proteinopathy: Table

(2015) J. Paul Taylor   NEUROLOGY

Optineurin Negatively Regulates Osteoclast Differentiation by Modulating NF-κB and Interferon Signaling: Implications for Paget’s Disease

(2015) Rami Obaid et al.   Cell Reports

Novel homozygous mutations in the osteoprotegerin gene TNFRSF11B in two unrelated patients with juvenile Paget's disease

(2014) Dorit Naot et al.   BONE

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK

(2014) Michael P. Whyte et al.   BONE

Denosumab Treatment for Juvenile Paget's Disease: Results From Two Adult Patients With Osteoprotegerin Deficiency (“Balkan” Mutation in theTNFRSF11BGene)

(2014) Stergios A. Polyzos et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

(2013) Elisa Teyssou et al.   ACTA NEUROPATHOLOGICA

Eukaryotic Stress Granules Are Cleared by Autophagy and Cdc48/VCP Function

(2013) J. Ross Buchan et al.   CELL

Juvenile Paget's disease in an Iranian kindred with vitamin D deficiency and novel homozygousTNFRSF11Bmutation

(2013) Forough Saki et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Panostotic Expansile Bone Disease With Massive Jaw Tumor Formation and a Novel Mutation in the Signal Peptide of RANK

(2013) Anne L Schafer et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Effects of RANK-Ligand Antibody (Denosumab) Treatment on Bone Turnover Markers in a Girl With Juvenile Paget's Disease

(2013) Corinna Grasemann et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

Motor neuron involvement in multisystem proteinopathy: Implications for ALS

(2013) M. Benatar et al.   NEUROLOGY

VCP Is Essential for Mitochondrial Quality Control by PINK1/Parkin and this Function Is Impaired by VCP Mutations

(2013) Nam Chul Kim et al.   NEURON

A Ribosome-Bound Quality Control Complex Triggers Degradation of Nascent Peptides and Signals Translation Stress

(2012) Onn Brandman et al.   CELL

Signal peptide mutations in RANK prevent downstream activation of NF-κB

(2011) Julie C Crockett et al.   JOURNAL OF BONE AND MINERAL RESEARCH

UBQLN2/P62 cellular recycling pathways in amyotrophic lateral sclerosis and frontotemporal dementia

(2011) Faisal Fecto et al.   MUSCLE & NERVE

The ubiquitin-selective segregase VCP/p97 orchestrates the response to DNA double-strand breaks

(2011) Mayura Meerang et al.   NATURE CELL BIOLOGY

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

(2010) Emilie Tresse et al.   Autophagy

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone

(2010) Sara K. Custer et al.   HUMAN MOLECULAR GENETICS

Profound hypocalcemia following effective response to zoledronic acid treatment in a patient with juvenile Paget’s disease

(2010) Stergios A. Polyzos et al.   JOURNAL OF BONE AND MINERAL METABOLISM

TDP-43 Mediates Degeneration in a Novel Drosophila Model of Disease Caused by Mutations in VCP/p97

(2010) G. P. Ritson et al.   JOURNAL OF NEUROSCIENCE

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

(2010) Omar M E Albagha et al.   NATURE GENETICS

VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease

(2010) Mallikarjun Badadani et al.   PLoS One

Early onset Paget's disease of bone caused by a novel mutation (78dup27) of the TNFRSF11A gene in a Chinese family

(2009) Yao-hua Ke et al.   ACTA PHARMACOLOGICA SINICA

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

(2009) Jeong-Sun Ju et al.   JOURNAL OF CELL BIOLOGY

Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis

(2009) Mohammad Salajegheh et al.   MUSCLE & NERVE