Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

scientific article published on 17 June 2015

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1093/HMG/DDV220
P932PMC publication ID4527494
P698PubMed publication ID26085577
P5875ResearchGate publication ID278791189

P50authorFrédéric DariosQ55711533
Cinzia GelleraQ56460022
Jaerak ChangQ58659203
Alexandra DurrQ60820298
Caterina MariottiQ67211429
Craig BlackstoneQ67242899
Typhaine EstevesQ114410036
Stephan ZüchnerQ30500867
Mathieu AnheimQ39486742
Giovanni StevaninQ41859352
P2093author name stringJun Li
James R Edgar
Jennifer Hirst
Marianna Madeo
Michael C Kruer
Ricardo H Roda
Margaret S Robinson
P2860cites workA tumor-associated mutation of FYVE-CENT prevents its interaction with Beclin 1 and interferes with cytokinesisQ21135540
The fifth adaptor protein complexQ24294501
Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegiaQ24301499
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegiaQ24338151
Autophagy in lysosomal storage disordersQ24601671
The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunctionQ24603159
Fusion of lysosomes with late endosomes produces a hybrid organelle of intermediate density and is NSF dependentQ24678109
Endosome maturationQ26992067
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal systemQ27318572
Adaptor complex-independent clathrin function in yeastQ27936498
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyQ28081453
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosumQ48081283
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.Q50643435
AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.Q50647622
Endocytic delivery to lysosomes mediated by concurrent fusion and kissing events in living cells.Q50777337
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.Q51896097
Ultrastructural pathology of human lymphocytes in lysosomal disorders: a contribution to their morphological diagnosisQ72935913
Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patientsQ87606694
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersQ28116849
mu1A-adaptin-deficient mice: lethality, loss of AP-1 binding and rerouting of mannose 6-phosphate receptorsQ29622880
Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15.Q30542951
Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformationQ30624410
Niemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargoQ33717702
Souffle/Spastizin controls secretory vesicle maturation during zebrafish oogenesis.Q33811885
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.Q33835343
Common and uncommon pathogenic cascades in lysosomal storage diseasesQ33966917
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegiaQ34311101
LAPTMs regulate lysosomal function and interact with mucolipin 1: new clues for understanding mucolipidosis type IV.Q34496160
Long-term course and mutational spectrum of spatacsin-linked spastic paraplegiaQ34722797
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndromeQ34768405
Lysosome biogenesis and lysosomal membrane proteins: trafficking meets functionQ34996827
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosumQ35006688
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.Q35013212
Secondary lipid accumulation in lysosomal diseaseQ35240940
Adaptors for clathrin coats: structure and function.Q35912781
Assembly and function of AP-3 complexes in cells expressing mutant subunits.Q36381130
Lysosomes: fusion and functionQ36885390
Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15Q37200313
Trafficking and function of the tetraspanin CD63.Q37302224
Lysosomal storage disease: revealing lysosomal function and physiology.Q37739706
The cellular pathology of lysosomal diseasesQ37944549
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritanceQ38007254
Mucolipidosis type IV protein TRPML1-dependent lysosome formationQ38930529
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletionQ38970454
Cellular pathology of lysosomal storage disorders.Q40870656
A lipid associated with the antiphospholipid syndrome regulates endosome structure and functionQ41056430
hVps41 and VAMP7 function in direct TGN to late endosome transport of lysosomal membrane proteinsQ44294106
SPG15: a cause of juvenile atypical levodopa responsive parkinsonismQ44552163
Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafishQ47073753
P4510describes a project that usesImageJQ1659584
P433issue17
P921main subjectlysosomal storage diseaseQ675010
P304page(s)4984-4996
P577publication date2015-06-17
P1433published inHuman Molecular GeneticsQ2720965
P1476titleLoss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease
P478volume24

Reverse relations

cites work (P2860)
Q47359014AP-4 mediates export of ATG9A from the trans-Golgi network to promote autophagosome formation
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Q52348923Neuronal functions of adaptor complexes involved in protein sorting.
Q89019450Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis
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Q56347003ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis

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