scholarly article | Q13442814 |
P50 | author | Frédéric Darios | Q55711533 |
Cinzia Gellera | Q56460022 | ||
Jaerak Chang | Q58659203 | ||
Alexandra Durr | Q60820298 | ||
Caterina Mariotti | Q67211429 | ||
Craig Blackstone | Q67242899 | ||
Typhaine Esteves | Q114410036 | ||
Stephan Züchner | Q30500867 | ||
Mathieu Anheim | Q39486742 | ||
Giovanni Stevanin | Q41859352 | ||
P2093 | author name string | Jun Li | |
James R Edgar | |||
Jennifer Hirst | |||
Marianna Madeo | |||
Michael C Kruer | |||
Ricardo H Roda | |||
Margaret S Robinson | |||
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Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia | Q24301499 | ||
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia | Q24338151 | ||
Autophagy in lysosomal storage disorders | Q24601671 | ||
The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction | Q24603159 | ||
Fusion of lysosomes with late endosomes produces a hybrid organelle of intermediate density and is NSF dependent | Q24678109 | ||
Endosome maturation | Q26992067 | ||
A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system | Q27318572 | ||
Adaptor complex-independent clathrin function in yeast | Q27936498 | ||
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology | Q28081453 | ||
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum | Q48081283 | ||
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 diagnosis | Q72935913 | ||
Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients | Q87606694 | ||
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders | Q28116849 | ||
mu1A-adaptin-deficient mice: lethality, loss of AP-1 binding and rerouting of mannose 6-phosphate receptors | Q29622880 | ||
Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15. | Q30542951 | ||
Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation | Q30624410 | ||
Niemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargo | Q33717702 | ||
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 diseases | Q33966917 | ||
AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia | Q34311101 | ||
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 paraplegia | Q34722797 | ||
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome | Q34768405 | ||
Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function | Q34996827 | ||
SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum | Q35006688 | ||
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. | Q35013212 | ||
Secondary lipid accumulation in lysosomal disease | Q35240940 | ||
Adaptors for clathrin coats: structure and function. | Q35912781 | ||
Assembly and function of AP-3 complexes in cells expressing mutant subunits. | Q36381130 | ||
Lysosomes: fusion and function | Q36885390 | ||
Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15 | Q37200313 | ||
Trafficking and function of the tetraspanin CD63. | Q37302224 | ||
Lysosomal storage disease: revealing lysosomal function and physiology. | Q37739706 | ||
The cellular pathology of lysosomal diseases | Q37944549 | ||
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance | Q38007254 | ||
Mucolipidosis type IV protein TRPML1-dependent lysosome formation | Q38930529 | ||
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion | Q38970454 | ||
Cellular pathology of lysosomal storage disorders. | Q40870656 | ||
A lipid associated with the antiphospholipid syndrome regulates endosome structure and function | Q41056430 | ||
hVps41 and VAMP7 function in direct TGN to late endosome transport of lysosomal membrane proteins | Q44294106 | ||
SPG15: a cause of juvenile atypical levodopa responsive parkinsonism | Q44552163 | ||
Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish | Q47073753 | ||
P4510 | describes a project that uses | ImageJ | Q1659584 |
P433 | issue | 17 | |
P921 | main subject | lysosomal storage disease | Q675010 |
P304 | page(s) | 4984-4996 | |
P577 | publication date | 2015-06-17 | |
P1433 | published in | Human Molecular Genetics | Q2720965 |
P1476 | title | Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease | |
P478 | volume | 24 |
Q47359014 | AP-4 mediates export of ATG9A from the trans-Golgi network to promote autophagosome formation |
Q38803223 | Cargo trafficking from the trans-Golgi network towards the endosome |
Q90264490 | Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology |
Q91756836 | Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia |
Q27312256 | Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48). |
Q88650432 | Converging cellular themes for the hereditary spastic paraplegias |
Q33625326 | Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia |
Q26781439 | Forty Years of Clathrin-coated Vesicles |
Q88568860 | Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias |
Q90127184 | Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases |
Q57970789 | Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to Neurodegeneration |
Q90379387 | Lipids in the Physiopathology of Hereditary Spastic Paraplegias |
Q42691767 | Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias |
Q51738014 | Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia. |
Q49169440 | Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions. |
Q52348923 | Neuronal functions of adaptor complexes involved in protein sorting. |
Q89019450 | Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis |
Q48141935 | Role of the AP-5 adaptor protein complex in late endosome-to-Golgi retrieval. |
Q91583316 | Spastin MIT Domain Disease-Associated Mutations Disrupt Lysosomal Function |
Q39063017 | Subcellular Trafficking of Mammalian Lysosomal Proteins: An Extended View |
Q56347003 | ZFYVE26/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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