The CLN3 gene and protein: What we know

Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking

(2019) Carolin Schmidtke et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The UCSC Genome Browser database: 2019 update

(2018) Maximilian Haeussler et al.   NUCLEIC ACIDS RESEARCH

Overexpression of CLN3 contributes to tumour progression and predicts poor prognosis in hepatocellular carcinoma

(2018) Yu Xu et al.   SURGICAL ONCOLOGY-OXFORD

Ensembl 2018

(2017) Daniel R Zerbino et al.   NUCLEIC ACIDS RESEARCH

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

(2017) Cristy A. Ku et al.   JAMA Ophthalmology

Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons

(2017) Lotta Parviainen et al.   Acta Neuropathologica Communications

Self-Complementary AAV9 Gene Delivery Partially Corrects Pathology Associated with Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)

(2016) M. E. Bosch et al.   JOURNAL OF NEUROSCIENCE

Shwachman–Bodian–Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation fromC/EBPαandC/EBPβmRNAs

(2016) Kyungmin In et al.   NUCLEIC ACIDS RESEARCH

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

(2016) Nicole Weisschuh et al.   PLoS One

Confirmation ofTTC8as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51)

(2015) S. Goyal et al.   CLINICAL GENETICS

A novel mutation of CLN3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy

(2015) L. Licchetta et al.   European Journal of Medical Genetics

Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+Homeostasis, Autophagy, and CLN3 Protein Function

(2015) Uma Chandrachud et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Effects of sialidase NEU1 siRNA on proliferation, apoptosis, and invasion in human ovarian cancer

(2015) Li-rong Ren et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

RNAi-mediated knockdown of the CLN3 gene inhibits proliferation and promotes apoptosis in drug-resistant ovarian cancer cells

(2015) DONGWEI MAO et al.   Molecular Medicine Reports

Forty Years of Clathrin-coated Vesicles

(2015) Margaret S. Robinson   TRAFFIC

Starvation-Dependent Regulation of Golgi Quality Control Links the TOR Signaling and Vacuolar Protein Sorting Pathways

(2015) Niv Dobzinski et al.   Cell Reports

Association Between Missense Mutations in theBBS2Gene and Nonsyndromic Retinitis Pigmentosa

(2015) Elia Shevach et al.   JAMA Ophthalmology

Association between CLN3 (Neuronal Ceroid Lipofuscinosis, CLN3 Type) Gene Expression and Clinical Characteristics of Breast Cancer Patients

(2015) Joelle Makoukji et al.   Frontiers in Oncology

Effect of CLN3 silencing by RNA interference on the proliferation and apoptosis of human colorectal cancer cells

(2014) Xinguo Zhu et al.   BIOMEDICINE & PHARMACOTHERAPY

Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

(2014) Frauke Coppieters et al.   GENETICS IN MEDICINE

Novel CLN3 mutation causing autophagic vacuolar myopathy

(2014) A. Cortese et al.   NEUROLOGY

CLN3 Deficient Cells Display Defects in the ARF1-Cdc42 Pathway and Actin-Dependent Events

(2014) Mark L. Schultz et al.   PLoS One

Evidence for Aberrant Astrocyte Hemichannel Activity in Juvenile Neuronal Ceroid Lipofuscinosis (JNCL)

(2014) Maria Burkovetskaya et al.   PLoS One

FRET-Assisted Determination of CLN3 Membrane Topology

(2014) Ewa Ratajczak et al.   PLoS One

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

(2013) Feng Wang et al.   HUMAN GENETICS

The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis

(2013) Jake N. Miller et al.   HUMAN MOLECULAR GENETICS

A Novel c.1135_1138delCTGT Mutation in CLN3 Leads to Juvenile Neuronal Ceroid Lipofuscinosis

(2013) Arlene V. Drack et al.   JOURNAL OF CHILD NEUROLOGY

CLN3 Loss Disturbs Membrane Microdomain Properties and Protein Transport in Brain Endothelial Cells

(2013) L. Tecedor et al.   JOURNAL OF NEUROSCIENCE

Drafting the CLN3 Protein Interactome in SH-SY5Y Human Neuroblastoma Cells: A Label-free Quantitative Proteomics Approach

(2013) Enzo Scifo et al.   JOURNAL OF PROTEOME RESEARCH

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

RefSeq: an update on mammalian reference sequences

(2013) Kim D. Pruitt et al.   NUCLEIC ACIDS RESEARCH

Genome-Wide Pathway Analysis Reveals Different Signaling Pathways between Secreted Lactoferrin and Intracellular Delta-Lactoferrin

(2013) Byungtak Kim et al.   PLoS One

Alterations in ROS Activity and Lysosomal pH Account for Distinct Patterns of Macroautophagy in LINCL and JNCL Fibroblasts

(2013) José Manuel Vidal-Donet et al.   PLoS One

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

(2012) Kristiina Uusi-Rauva et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Nonmuscle myosin-2: mix and match

(2012) Sarah M. Heissler et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking

(2012) Susan L Cotman et al.   Clinical Lipidology

Gene Deregulation and Chronic Activation in Natural Killer Cells Deficient in the Transcription Factor ETS1

(2012) Kevin Ramirez et al.   IMMUNITY

New and continuing developments at PROSITE

(2012) Christian J. A. Sigrist et al.   NUCLEIC ACIDS RESEARCH

The Batten disease gene CLN3 is required for the response to oxidative stress

(2011) Richard I. Tuxworth et al.   HUMAN MOLECULAR GENETICS

Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways

(2011) Michela Palmieri et al.   HUMAN MOLECULAR GENETICS

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

(2011) Maria Kousi et al.   HUMAN MUTATION

The yeast Batten disease orthologue Btn1 controls endosome–Golgi retrograde transport via SNARE assembly

(2011) Rachel Kama et al.   JOURNAL OF CELL BIOLOGY

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients

(2011) María-Socorro Pérez-Poyato et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

(2011) Corine Bertolotto et al.   NATURE

Heat shock factor binding in Alu repeats expands its involvement in stress through an antisense mechanism

(2011) Rajesh Pandey et al.   GENOME BIOLOGY

Neuroradiological findings in the northern epilepsy syndrome

(2010) A. Hirvasniemi et al.   ACTA NEUROLOGICA SCANDINAVICA

Osmoregulation of ceroid neuronal lipofuscinosis type 3 in the renal medulla

(2010) Colleen S. Stein et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Screening for calcium channel modulators in CLN3 siRNA knock down SH-SY5Y neuroblastoma cells reveals a significant decrease of intracellular calcium levels by selected L-type calcium channel blockers

(2010) Kristina an Haack et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Batten disease (Spielmeyer-Sjogren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16

(2010) H. Eiberg et al.   CLINICAL GENETICS

pH-dependent localization of Btn1p in the yeast model for Batten disease

(2010) D. M. Wolfe et al.   Disease Models & Mechanisms

A novel interaction of CLN3 with nonmuscle myosin-IIB and defects in cell motility of Cln3−/− cells

(2010) Amanda L. Getty et al.   EXPERIMENTAL CELL RESEARCH

Towards a knowledge-based Human Protein Atlas

(2010) Mathias Uhlen et al.   NATURE BIOTECHNOLOGY

A knock-in reporter mouse model for Batten disease reveals predominant expression of Cln3 in visual, limbic and subcortical motor structures

(2010) Song-Lin Ding et al.   NEUROBIOLOGY OF DISEASE

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins

(2009) Annina Lyly et al.   BMC CELL BIOLOGY

Mapping of HNF4α target genes in intestinal epithelial cells

(2009) Mette Boyd et al.   BMC GASTROENTEROLOGY

Uncovering Early Response of Gene Regulatory Networks in ESCs by Systematic Induction of Transcription Factors

(2009) Akira Nishiyama et al.   Cell Stem Cell

The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland

(2009) SJ Moore et al.   CLINICAL GENETICS

Protracted course of juvenile ceroid lipofuscinosis associated with a novelCLN3mutation (p.Y199X)

(2009) A Sarpong et al.   CLINICAL GENETICS

Ubiquitin-mediated proteolysis of HuR by heat shock

(2009) Kotb Abdelmohsen et al.   EMBO JOURNAL

Integrated approach for the identification of human hepatocyte nuclear factor 4α target genes using protein binding microarrays

(2009) Eugene Bolotin et al.   HEPATOLOGY

Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease

(2009) Seasson Phillips Vitiello et al.   HUMAN MOLECULAR GENETICS

A novelCLN8mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function

(2009) Chiara Vantaggiato et al.   HUMAN MUTATION

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship

(2009) Anne-Hélène Lebrun et al.   HUMAN MUTATION

S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p

(2009) S. Codlin et al.   JOURNAL OF CELL SCIENCE

JASPAR 2010: the greatly expanded open-access database of transcription factor binding profiles

(2009) Elodie Portales-Casamar et al.   NUCLEIC ACIDS RESEARCH

MEME SUITE: tools for motif discovery and searching

(2009) T. L. Bailey et al.   NUCLEIC ACIDS RESEARCH

A Gene Network Regulating Lysosomal Biogenesis and Function

(2009) Marco Sardiello et al.   SCIENCE

DNA Specificity Determinants Associate with Distinct Transcription Factor Functions

(2009) Peter C. Hollenhorst et al.   PLoS Genetics

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

(2009) Chunlei Wu et al.   GENOME BIOLOGY

Molecular mechanism underlying differential apoptosis between human melanoma cell lines UACC903 and UACC903(+6) revealed by mitochondria-focused cDNA microarrays

(2008) Qiuyang Zhang et al.   APOPTOSIS

Sorting of lysosomal proteins

(2008) Thomas Braulke et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Integration of External Signaling Pathways with the Core Transcriptional Network in Embryonic Stem Cells

(2008) Xi Chen et al.   CELL

Analysis of NCL Proteins from an Evolutionary Standpoint

(2008) Neda Muzaffar et al.   CURRENT GENOMICS

Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin–Na+, K+ ATPase complex

(2008) Kristiina Uusi-Rauva et al.   EXPERIMENTAL CELL RESEARCH

The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data

(2008) Timothy Nugent et al.   FEBS LETTERS

Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models

(2008) C.-H. Chan et al.   HUMAN MOLECULAR GENETICS

btn1 Affects Endocytosis, Polarization of Sterol-Rich Membrane Domains and Polarized Growth in Schizosaccharomyces pombe

(2008) Sandra Codlin et al.   TRAFFIC

Loss of the Batten Disease Gene CLN3 Prevents Exit from the TGN of the Mannose 6-Phosphate Receptor

(2008) Daniel J Metcalf et al.   TRAFFIC

Intermediate levels of neuronal palmitoyl-protein Δ-9 desaturase in heterozygotes for murine Batten disease

(2007) Srinivas B. Narayan et al.   MOLECULAR GENETICS AND METABOLISM