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112 results on '"Vesicular Transport Proteins deficiency"'

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1. TANGO2 deficiency disease is predominantly caused by a lipid imbalance.

2. Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion.

3. A single genetic locus controls both expression of DPEP1/CHMP1A and kidney disease development via ferroptosis.

4. Activation of mTORC1 at late endosomes misdirects T cell fate decision in older individuals.

5. VPS39-deficiency observed in type 2 diabetes impairs muscle stem cell differentiation via altered autophagy and epigenetics.

6. Ca 2+ sensor proteins in spontaneous release and synaptic plasticity: Limited contribution of Doc2c, rabphilin-3a and synaptotagmin 7 in hippocampal glutamatergic neurons.

7. Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.

8. Partial Inhibition of Calcineurin Activity by Rcn2 as a Potential Remedy for Vps13 Deficiency.

9. Protrudin-deficient mice manifest depression-like behavior with abnormalities in activity, attention, and cued fear-conditioning.

10. Coupling of terminal differentiation deficit with neurodegenerative pathology in Vps35-deficient pyramidal neurons.

11. Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration.

12. Inactivation of Rho GTPases by Burkholderia cenocepacia Induces a WASH-Mediated Actin Polymerization that Delays Phagosome Maturation.

13. Adoptive T-Cell Transfer to Treat Lymphangioleiomyomatosis.

14. Targeting the IL-1β/EHD1/TUBB3 axis overcomes resistance to EGFR-TKI in NSCLC.

15. Binding and intracellular transport of 25-hydroxycholesterol by Niemann-Pick C2 protein.

16. Vps35 Deficiency Impairs Cdk5/p35 Degradation and Promotes the Hyperphosphorylation of Tau Protein in Retinal Ganglion Cells.

17. Successful treatment with daratumumab for post-HSCT refractory hemolytic anemia.

18. Inducible Exoc7/Exo70 knockout reveals a critical role of the exocyst in insulin-regulated GLUT4 exocytosis.

19. Primary cilia and the exocyst are linked to urinary extracellular vesicle production and content.

20. Sec3 knockdown inhibits TGF-β induced epithelial-mesenchymal transition through the down-regulation of Akt phosphorylation in A549 cells.

21. Intracellular cholesterol trafficking is dependent upon NPC2 interaction with lysobisphosphatidic acid.

22. Vps10-mediated targeting of Pep4 determines the activity of the vacuole in a substrate-dependent manner.

23. Synbindin deficiency inhibits colon carcinogenesis by attenuating Wnt cascade and balancing gut microbiome.

24. A systematic approach to identify recycling endocytic cargo depending on the GARP complex.

25. An Insulin-Responsive Sensor in the SIRT1 Disordered Region Binds DBC1 and PACS-2 to Control Enzyme Activity.

26. The topology of the lymphotoxin β receptor that accumulates upon endolysosomal dysfunction dictates the NF-κB signaling outcome.

27. SNAP23 regulates BAX-dependent adipocyte programmed cell death independently of canonical macroautophagy.

28. Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN .

29. Exocyst Complex Member EXOC5 Is Required for Survival of Hair Cells and Spiral Ganglion Neurons and Maintenance of Hearing.

30. Beyond autophagy: a novel role for autism-linked Wdfy3 in brain mitophagy.

31. Precise control of SCRaMbLE in synthetic haploid and diploid yeast.

32. Analysis of MCFD2- and LMAN1-deficient mice demonstrates distinct functions in vivo.

33. Atg9a deficiency causes axon-specific lesions including neuronal circuit dysgenesis.

34. Atg2A/B deficiency switches cytoprotective autophagy to non-canonical caspase-8 activation and apoptosis.

35. COG7 deficiency in Drosophila generates multifaceted developmental, behavioral and protein glycosylation phenotypes.

36. Vps35-deficiency impairs SLC4A11 trafficking and promotes corneal dystrophy.

37. The exocyst is required for photoreceptor ciliogenesis and retinal development.

38. Drug-induced endovesiculation of erythrocytes is modulated by the dynamics in the cytoskeleton/membrane interaction.

39. [Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia].

40. SLC10A4 regulates IgE-mediated mast cell degranulation in vitro and mast cell-mediated reactions in vivo.

41. Transmembrane protein 108 is required for glutamatergic transmission in dentate gyrus.

42. BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells.

43. Variants of Rab GTPase-Effector Binding Protein-2 Cause Variation in the Collateral Circulation and Severity of Stroke.

44. The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.

45. VPS35 regulates cell surface recycling and signaling of dopamine receptor D1.

46. Increased copper toxicity in Saccharomyces cerevisiae lacking VPS35, a component of the retromer and monogenic Parkinson disease gene in humans.

47. Heterozygous Chorein Deficiency in Probable Tau-negative Early-onset Alzheimer Disease.

48. Pancreatic SEC23B deficiency is sufficient to explain the perinatal lethality of germline SEC23B deficiency in mice.

49. Enhancement of malate-production and increase in sensitivity to dimethyl succinate by mutation of the VID24 gene in Saccharomyces cerevisiae.

50. ATG9A loss confers resistance to trastuzumab via c-Cbl mediated Her2 degradation.

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