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NGLY1 mutations cause protein aggregation in human neurons
Andreea Manole
, Thomas Wong
, Amanda Rhee
, Sammy Novak
, Shao Ming Chin
, Katya Tsimring
, Andres Paucar
, April Williams
, Traci Fang Newmeyer
, Simon T. Schafer
,
Idan Rosh
, Susmita Kaushik
, Rene Hoffman
, Songjie Chen
, Guangwen Wang
, Michael Snyder
, Ana Maria Cuervo
, Leo Andrade
, Uri Manor
, Kevin Lee
Jeffrey R. Jones,
Shani Stern
, Maria C. Marchetto, Fred H. Gage
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Department of Neurobiology
Research output
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Contribution to journal
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Article
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peer-review
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Keyphrases
Human Neurons
100%
N-glycanase
100%
Protein Aggregation
100%
Induced Pluripotent Stem Cells (iPSCs)
28%
Protein Aggregates
28%
Seizure
14%
Intellectual Disability
14%
Astrocytes
14%
Neuropathy
14%
Stem Cell-derived
14%
Mass Spectrometry
14%
Functional Studies
14%
Synaptic Dysfunction
14%
Gene Loss
14%
Cellular Processes
14%
Rare Diseases
14%
Developmental Delay
14%
Cortical Neurons
14%
Direct Conversion
14%
Therapeutic Development
14%
Biallelic mutations
14%
Human Induced Pluripotent Stem Cell-derived Neurons
14%
Immature Neurons
14%
Transcriptomic Study
14%
Human Neural Cells
14%
Proteomic Study
14%
Mitochondrial Homeostasis
14%
Laser Capture Microscopy
14%
N-glycanase 1 Deficiency
14%
NGLY1
14%
Computational Proteomics
14%
Biochemistry, Genetics and Molecular Biology
Induced Pluripotent Stem Cell
100%
Protein Aggregation
100%
Mass Spectrometry
33%
Homeostasis
33%
Transcriptomics
33%
Astrocyte
33%
Intellectual Disability
33%
Enzyme
33%
Gene Loss
33%
Proteomics
33%
Neuroscience
Glucan Synthase
100%
Protein Aggregation
100%
Stem Cell
37%
Protein Aggregate
25%
Mass Spectrometry
12%
Astrocyte
12%
Transcriptomics
12%
Nervous System Cell
12%
Proteomics
12%
Gene Loss
12%
Neuropathy
12%