Results 71 to 80 of about 9,787 (196)
NEK1 mutations promote lethality early in life and ALS late in life via unknown mechanisms. Here, the authors show that NEK1 mutation disrupts retromer-mediated trafficking and promotes RIPK1 activation, connecting retromer trafficking and metabolism to ...
Huibing Wang +13 more
doaj +1 more source
Arabidopsis ROOT UVB SENSITIVE2/WEAK AUXIN RESPONSE1 is required for polar auxin transport [PDF]
Auxin is an essential phytohormone that regulates many aspects of plant development. To identify new genes that function in auxin signaling, we performed a genetic screen for Arabidopsis thaliana mutants with an alteration in the expression of the auxin ...
Ge, L +10 more
core +2 more sources
This study identifies vacuole membrane protein 1 (VMP1) as a critical regulator of intestinal epithelial barrier homeostasis. VMP1 facilitates the recruitment of CORO1C to late endosomes, supporting Retromer‐mediated recycling of the tight junction protein Occludin.
Jiawei Zhao +12 more
wiley +1 more source
During the tail end of the 20th century, a "golden period" in Alzheimer disease (AD) research, many of the pathogenic molecules of the autosomal dominant form of the disease were isolated. These molecular defects, however, do not exist in "sporadic" late-onset AD, the form of the disease that accounts for more than 95% of all cases.
openaire +2 more sources
VPS35, the Retromer Complex and Parkinson’s Disease [PDF]
Mutations in the vacuolar protein sorting 35 ortholog ( VPS35) gene encoding a core component of the retromer complex, have recently emerged as a new cause of late-onset, autosomal dominant familial Parkinson’s disease (PD). A single missense mutation, AspD620Asn (D620N), has so far been unambiguously identified to cause PD in multiple individuals and ...
Williams, Erin T. +2 more
openaire +2 more sources
Discovery and validation of a urinary extracellular vesicle protein signature for the diagnosis of renal allograft fibrosis. Abstract Interstitial fibrosis is the best indicator of irreversible or ongoing renal injury after kidney transplantation and faces considerable diagnostic challenges.
Wenxuan Zhao +12 more
wiley +1 more source
Retromer dependent recycling of the Wnt secretion factor Wls is dispensable for stem cell maintenance in the mammalian intestinal epithelium. [PDF]
In C. elegans and Drosophila, retromer mediated retrograde transport of Wntless (Wls) from endosomes to the trans-Golgi network (TGN) is required for Wnt secretion.
Reinoud E A de Groot +5 more
doaj +1 more source
An early secretory pathway mediated by GNOM-LIKE 1 and GNOM is essential for basal polarity establishment in Arabidopsis thaliana [PDF]
Spatial regulation of the plant hormone indole-3-acetic acid (IAA, or auxin) is essential for plant development. Auxin gradient establishment is mediated by polarly localized auxin transporters, including PIN-FORMED (PIN) proteins. Their localization and
Doyle, Siamsa M +10 more
core +1 more source
MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights
Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang +24 more
wiley +1 more source
Structural characterisation of retromer complexes [PDF]
Retromer is a peripheral membrane protein complex that plays a critical role in a broad range of physiological, developmental and pathological processes including Wnt signalling, toxin transport and amyloid production in Alzheimer's disease. The classical mammalian retromer complex consists of a core heterotrimeric cargo recognition sub-complex (VPS26,
Suzanne Norwood +6 more
openaire +1 more source

