Related references
Note: Only part of the references are listed.Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)
Daniel J. Klionsky et al.
AUTOPHAGY (2021)
Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses
Elisabeth S. Butz et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2020)
CLN3 regulates endosomal function by modulating Rab7A-effector interactions
Seda Yasa et al.
JOURNAL OF CELL SCIENCE (2020)
Unraveling the complexity of γ-secretase
Michael S. Wolfe
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2020)
Structure-activity relationship of presenilin in γ-secretase-mediated intramembrane cleavage
Tetsuo Cai et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2020)
Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium
Yu Zhong et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2020)
The substrate repertoire of γ-secretase/presenilin
Gokhan Guener et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2020)
Neuronal activity regulates alternative exon usage
Johanna Denkena et al.
MOLECULAR BRAIN (2020)
Lysosome biogenesis in health and disease
Lakshya Bajaj et al.
JOURNAL OF NEUROCHEMISTRY (2019)
Amyloidosis causes downregulation of SorLA, SorCS1 and SorCS3 expression in mice
Guido Hermey et al.
BIOLOGICAL CHEMISTRY (2019)
Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies associated with changes in intracellular trafficking
Carolin Schmidtke et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2019)
IID 2018 update: context-specific physical protein-protein interactions in human, model organisms and domesticated species
Max Kotlyar et al.
NUCLEIC ACIDS RESEARCH (2019)
Trafficking in Alzheimer's Disease: Modulation of APP Transport and Processing by the Transmembrane Proteins LRP1, SorLA, SorCS1c, Sortilin, and Calsyntenin
Simone Eggert et al.
MOLECULAR NEUROBIOLOGY (2018)
An Alzheimer's Disease-Linked Loss-of-Function CLN5 Variant Impairs Cathepsin D Maturation, Consistent with a Retromer Trafficking Defect
Yasir H. Qureshi et al.
MOLECULAR AND CELLULAR BIOLOGY (2018)
Endo-lysosomal and autophagic dysfunction: a driving factor in Alzheimer's disease?
Lauren S. Whyte et al.
JOURNAL OF NEUROCHEMISTRY (2017)
mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases
Michela Palmieri et al.
NATURE COMMUNICATIONS (2017)
Restricted Location of PSEN2/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool
Ragna Sannerud et al.
CELL (2016)
Presenilin 1 and Presenilin 2 Target γ-Secretase Complexes to Distinct Cellular Compartments
Xavier Meckler et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2016)
Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis
Sandra Oetjen et al.
JOURNAL OF NEUROCHEMISTRY (2016)
Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency
Kavya Reddy et al.
CELL REPORTS (2016)
Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function
Uma Chandrachud et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
SorCS1 variants and amyloid precursor protein (APP) are co-transported in neurons but only SorCS1c modulates anterograde APP transport
Guido Hermey et al.
JOURNAL OF NEUROCHEMISTRY (2015)
Neuronal-Targeted TFEB Accelerates Lysosomal Degradation of APP, Reducing Aβ Generation and Amyloid Plaque Pathogenesis
Qingli Xiao et al.
JOURNAL OF NEUROSCIENCE (2015)
Presenilin 1 Maintains Lysosomal Ca2+ Homeostasis via TRPML1 by Regulating vATPase-Mediated Lysosome Acidification
Ju-Hyun Lee et al.
CELL REPORTS (2015)
Pen-2 Is Essential for γ-Secretase Complex Stability and Trafficking but Partially Dispensable for Endoproteolysis
Oliver Holmes et al.
BIOCHEMISTRY (2014)
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway
Xenia Lojewski et al.
HUMAN MOLECULAR GENETICS (2014)
Spatiotemporal Expression Analysis of the Growth Factor Receptor SorCS3
Sandra Oetjen et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2014)
Human pathology in NCL
Glenn W. Anderson et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2013)
Cell biology and function of neuronal ceroid lipofuscinosis-related proteins
Katrin Kollmann et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2013)
Multiplex Genome Engineering Using CRISPR/Cas Systems
Le Cong et al.
SCIENCE (2013)
The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking
Susan L. Cotman et al.
CLINICAL LIPIDOLOGY (2012)
Update of the Mutation Spectrum and Clinical Correlations of over 360 Mutations in Eight Genes that Underlie the Neuronal Ceroid Lipofuscinoses
Maria Kousi et al.
HUMAN MUTATION (2012)
Lysosomal calcium homeostasis defects, not proton pump defects, cause endo-lysosomal dysfunction in PSEN-deficient cells
Katrijn Coen et al.
JOURNAL OF CELL BIOLOGY (2012)
A Role for Presenilins in Autophagy Revisited: Normal Acidification of Lysosomes in Cells Lacking PSEN1 and PSEN2
Xulun Zhang et al.
JOURNAL OF NEUROSCIENCE (2012)
Structure-based prediction of protein-protein interactions on a genome-wide scale
Qiangfeng Cliff Zhang et al.
NATURE (2012)
miRDeepFinder: a miRNA analysis tool for deep sequencing of plant small RNAs
Fuliang Xie et al.
PLANT MOLECULAR BIOLOGY (2012)
Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance
Diego L. Medina et al.
DEVELOPMENTAL CELL (2011)
Functional and Topological Analysis of Pen-2, the Fourth Subunit of the γ-Secretase Complex
Leen Bammens et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Regulated intramembrane proteolysis - lessons from amyloid precursor protein processing
Stefan F. Lichtenthaler et al.
JOURNAL OF NEUROCHEMISTRY (2011)
Presenilin Is Necessary for Efficient Proteolysis through the Autophagy-Lysosome System in a γ-Secretase-Independent Manner
Kara M. Neely et al.
JOURNAL OF NEUROSCIENCE (2011)
Autophagy failure in Alzheimer's disease-locating the primary defect
Ralph A. Nixon et al.
NEUROBIOLOGY OF DISEASE (2011)
Distinct Early Molecular Responses to Mutations Causing vLINCL and JNCL Presage ATP Synthase Subunit C Accumulation in Cerebellar Cells
Yi Cao et al.
PLOS ONE (2011)
Lysosomal Proteolysis and Autophagy Require Presenilin 1 and Are Disrupted by Alzheimer-Related PS1 Mutations
Ju-Hyun Lee et al.
CELL (2010)
Imaging type-III secretion reveals dynamics and spatial segregation of Salmonella effectors
Schuyler B. Van Engelenburg et al.
NATURE METHODS (2010)
γ-Secretase Gene Mutations in Familial Acne Inversa
Baoxi Wang et al.
SCIENCE (2010)
PLIC proteins or ubiquilins regulate autophagy-dependent cell survival during nutrient starvation
Elsa-Noah N'Diaye et al.
EMBO REPORTS (2009)
A Gene Network Regulating Lysosomal Biogenesis and Function
Marco Sardiello et al.
SCIENCE (2009)
Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models
Chun-Hung Chan et al.
HUMAN MOLECULAR GENETICS (2008)
Different motifs regulate trafficking of SorCS1 isoforms
Morten S. Nielsen et al.
TRAFFIC (2008)
Loss of the Batten Disease Gene CLN3 Prevents Exit from the TGN of the Mannose 6-Phosphate Receptor
Daniel J. Metcalf et al.
TRAFFIC (2008)
A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis
Claudia Kitzmueller et al.
HUMAN MOLECULAR GENETICS (2008)
Integral and associated lysosomal membrane proteins
Bernd Schroeder et al.
TRAFFIC (2007)
Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis
Yi Cao et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Assembly, trafficking and function of gamma-secretase
Christoph Kaether et al.
NEURODEGENERATIVE DISEASES (2006)
Defective lysosomal arginine transport in juvenile Batten disease
D Ramirez-Montealegre et al.
HUMAN MOLECULAR GENETICS (2005)
AP-1 and AP-3 facilitate lysosomal targeting of batten disease protein CLN3 via its dileucine motif
A Kyttälä et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Comprehensive proteomic analysis of human par protein complexes reveals an interconnected protein network
M Brajenovic et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells
A Kyttälä et al.
MOLECULAR BIOLOGY OF THE CELL (2004)
Presenilin 1 mediates the turnover of telencephalin in hippocampal neurons via an autophagic degradative pathway
C Esselens et al.
JOURNAL OF CELL BIOLOGY (2004)
A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the Batten disease-related CLN3 protein are required for efficient lysosomal targeting
S Storch et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis
E Fossale et al.
BMC NEUROSCIENCE (2004)
Requirement of PEN-2 for stabilization of the presenilin N-/C-terminal fragment heterodimer within the γ-secretase complex
S Prokop et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Degradative organelles containing mislocalized α- and β-synuclein proliferate in presenilin-1 null neurons
CA Wilson et al.
JOURNAL OF CELL BIOLOGY (2004)
Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease
QW Mao et al.
FEBS LETTERS (2003)
Aph-1, Pen-2, and nicastrin with presenilin generate an active γ-secretase complex
B De Strooper
NEURON (2003)
The role of presenilin cofactors in the γ-secretase complex
N Takasugi et al.
NATURE (2003)
Cln3Δex7/8 knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth
SL Cotman et al.
HUMAN MOLECULAR GENETICS (2002)
Relative expression software tool (REST©) for group-wise comparison and statistical analysis of relative expression results in real-time PCR -: art. no. e36
MW Pfaffl et al.
NUCLEIC ACIDS RESEARCH (2002)
Northern epilepsy:: A novel form of neuronal ceroid-lipofuscinosis
R Herva et al.
BRAIN PATHOLOGY (2000)