Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease
about
Forty Years of Clathrin-coated VesiclesComplicated spastic paraplegia in patients with AP5Z1 mutations (SPG48).Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegiaCargo trafficking from the trans-Golgi network towards the endosome.Subcellular Trafficking of Mammalian Lysosomal Proteins: An Extended View.Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.AP-4 mediates export of ATG9A from the trans-Golgi network to promote autophagosome formation.Role of the AP-5 adaptor protein complex in late endosome-to-Golgi retrieval.Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration
P2860
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P2860
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
@zh-hk
2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Loss of AP-5 results in accumu ...... e of lysosomal storage disease
@ast
Loss of AP-5 results in accumu ...... e of lysosomal storage disease
@en
type
label
Loss of AP-5 results in accumu ...... e of lysosomal storage disease
@ast
Loss of AP-5 results in accumu ...... e of lysosomal storage disease
@en
prefLabel
Loss of AP-5 results in accumu ...... e of lysosomal storage disease
@ast
Loss of AP-5 results in accumu ...... e of lysosomal storage disease
@en
P2093
P2860
P50
P356
P1476
Loss of AP-5 results in accumu ...... e of lysosomal storage disease
@en
P2093
Alexandra Dürr
Caterina Mariotti
Craig Blackstone
James R Edgar
Jennifer Hirst
Margaret S Robinson
Marianna Madeo
Michael C Kruer
Ricardo H Roda
P2860
P304
P356
10.1093/HMG/DDV220
P577
2015-06-17T00:00:00Z