相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。The mutational constraint spectrum quantified from variation in 141,456 humans
Konrad J. Karczewski et al.
NATURE (2020)
HSPA12A targets the cytoplasmic domain and affects the trafficking of the Amyloid Precursor Protein receptor SorLA
Peder Madsen et al.
SCIENTIFIC REPORTS (2019)
Protein Quality Control in the Endoplasmic Reticulum
Benjamin M. Adams et al.
PROTEIN JOURNAL (2019)
SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data
Dominique Campion et al.
ACTA NEUROPATHOLOGICA (2019)
NIA-AA Research Framework: Toward a biological definition of Alzheimer's disease
Clifford R. Jack et al.
ALZHEIMERS & DEMENTIA (2018)
CRISPOR: intuitive guide selection for CRISPR/Cas9 genome editing experiments and screens
Jean-Paul Concordet et al.
NUCLEIC ACIDS RESEARCH (2018)
Structural effects of point mutations in proteins
Suvethigaa Shanthirabalan et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2018)
Sorting receptor SORLA: cellular mechanisms and implications for disease
Vanessa Schmidt et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2017)
Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy
Henne Holstege et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
Celine Bellenguez et al.
NEUROBIOLOGY OF AGING (2017)
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons
Gael Nicolas et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease
G. Nicolas et al.
MOLECULAR PSYCHIATRY (2016)
A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease
Jan Verheijen et al.
ACTA NEUROPATHOLOGICA (2016)
Risk factor SORL1: from genetic association to functional validation in Alzheimer's disease
Olav M. Andersen et al.
ACTA NEUROPATHOLOGICA (2016)
From Common to Rare Variants: The Genetic Component of Alzheimer Disease
Gael Nicolas et al.
HUMAN HEREDITY (2016)
SNX27 and SORLA Interact to Reduce Amyloidogenic Subcellular Distribution and Processing of Amyloid Precursor Protein
Timothy Y. Huang et al.
JOURNAL OF NEUROSCIENCE (2016)
SORL1 mutations in early- and late-onset Alzheimer disease
Michael L. Cuccaro et al.
NEUROLOGY-GENETICS (2016)
Coding Mutations in SORL1 and Alzheimer Disease
Badri N. Vardarajan et al.
ANNALS OF NEUROLOGY (2015)
Distinct Functions for Anterograde and Retrograde Sorting of SORLA in Amyloidogenic Processes in the Brain
Sonya B. Dumanis et al.
JOURNAL OF NEUROSCIENCE (2015)
Structural basis for amyloidogenic peptide recognition by sorLA
Yu Kitago et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2015)
Structural basis for amyloidogenic peptide recognition by sorLA
Yu Kitago et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2015)
Protein trafficking defects in inherited kidney diseases
Celine Schaeffer et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2014)
Lysosomal Sorting of Amyloid-β by the SORLA Receptor Is Impaired by a Familial Alzheimer's Disease Mutation
Safak Caglayan et al.
SCIENCE TRANSLATIONAL MEDICINE (2014)
Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology
Catharina Steentoft et al.
EMBO JOURNAL (2013)
Sortilin and SorLA Display Distinct Roles in Processing and Trafficking of Amyloid Precursor Protein
Camilla Gustafsen et al.
JOURNAL OF NEUROSCIENCE (2013)
Genome engineering using the CRISPR-Cas9 system
F. Ann Ran et al.
NATURE PROTOCOLS (2013)
Retromer Binds the FANSHY Sorting Motif in SorLA to Regulate Amyloid Precursor Protein Sorting and Processing
Anja W. Fjorback et al.
JOURNAL OF NEUROSCIENCE (2012)
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease
C. Pottier et al.
MOLECULAR PSYCHIATRY (2012)
Fiji: an open-source platform for biological-image analysis
Johannes Schindelin et al.
NATURE METHODS (2012)
Antigen retrieval to improve the immunocytochemistry detection of sigma-1 receptors and ER chaperones
Teruo Hayashi et al.
HISTOCHEMISTRY AND CELL BIOLOGY (2011)
Sortilin-related receptor with A-type repeats (SORLA) affects the amyloid precursor protein-dependent stimulation of ERK signaling and adult neurogenesis
Michael Rohe et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Loss of LR11/SORLA Enhances Early Pathology in a Mouse Model of Amyloidosis: Evidence for a Proximal Role in Alzheimer's Disease
Sara E. Dodson et al.
JOURNAL OF NEUROSCIENCE (2008)
SorLA/LR11 regulates processing of amyloid precursor protein via interaction with adaptors GGA and PACS-1
Vanessa Schmidt et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Sorting by the cytoplasmic domain of the amyloid precursor protein binding receptor SorLA
Morten S. Nielsen et al.
MOLECULAR AND CELLULAR BIOLOGY (2007)
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
Ekaterina Rogaeva et al.
NATURE GENETICS (2007)
N-linked oligosaccharides on the low density lipoprotein receptor homolog SorLA/LR11 are modified with terminal GalNAc-4-SO4 in kidney and brain
Dorothy Fiete et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
A guided tour into subcellular colocalization analysis in light microscopy
S. Bolte et al.
JOURNAL OF MICROSCOPY (2006)
Tumour necrosis factor α-converting enzyme mediates ectodomain shedding of Vps10p-domain receptor family members
G Hermey et al.
BIOCHEMICAL JOURNAL (2006)
The lipoprotein receptor LR11 regulates amyloid β production and amyloid precursor protein traffic in endosomal compartments
K Offe et al.
JOURNAL OF NEUROSCIENCE (2006)
Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein
OM Andersen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
UCSF chimera - A visualization system for exploratory research and analysis
EF Pettersen et al.
JOURNAL OF COMPUTATIONAL CHEMISTRY (2004)
Activation and functional characterization of the mosaic receptor SorLA/LR11
L Jacobsen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
分享论文
