Zobrazeno 1 - 10
of 79
pro vyhledávání: '"Rafael, Mattera"'
Autor:
Xin Chen, Thomas Dong, Yuhui Hu, Raffaella De Pace, Rafael Mattera, Kathrin Eberhardt, Marvin Ziegler, Terry Pirovolakis, Mustafa Sahin, Juan S. Bonifacino, Darius Ebrahimi-Fakhari, Steven J. Gray
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Spastic paraplegia 50 (SPG50) is an ultrarare childhood-onset neurological disorder caused by biallelic loss-of-function variants in the AP4M1 gene. SPG50 is characterized by progressive spastic paraplegia, global developmental delay, and subsequent
Externí odkaz:
https://doaj.org/article/2bba6f1c88c84947824d953a3f8dcd7e
Autor:
Raffaella De Pace, Miguel Skirzewski, Markus Damme, Rafael Mattera, Jeffrey Mercurio, Arianne M Foster, Loreto Cuitino, Michal Jarnik, Victoria Hoffmann, H Douglas Morris, Tae-Un Han, Grazia M S Mancini, Andrés Buonanno, Juan S Bonifacino
Publikováno v:
PLoS Genetics, Vol 14, Iss 4, p e1007363 (2018)
The hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of disorders characterized by progressive lower limb spasticity. Mutations in subunits of the heterotetrameric (ε-β4-μ4-σ4) adaptor protein 4 (AP-4) com
Externí odkaz:
https://doaj.org/article/8d246468754b439990a8441def5315a5
Publikováno v:
Molecular Biology of the Cell. 33
We show that the chaperone AAGAB binds the adaptor protein 4 (AP-4) ε and σ4 subunits, stabilizing them for assembly of the AP-4 complex. In the absence of AAGAB, AP-4 subunits are degraded by the proteasome, levels of the AP-4 complex are reduced,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01cc1188c6771e0d84442016819933c4
https://doi.org/10.1091/mbc.e22-05-0177
https://doi.org/10.1091/mbc.e22-05-0177
Publikováno v:
Molecular Biology of the Cell
The heterotetrameric adaptor protein complex 4 (AP-4) is a component of a protein coat associated with the trans-Golgi network (TGN). Mutations in AP-4 subunits cause a complicated form of autosomal-recessive hereditary spastic paraplegia termed AP-4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23a82710d5ec844ce6ea5dd05d74c29c
http://europepmc.org/articles/PMC7185972
http://europepmc.org/articles/PMC7185972
Publikováno v:
Molecular Biology of the Cell
Autophagy-related protein 9 (ATG9) is a transmembrane protein component of the autophagy machinery that cycles between the trans-Golgi network (TGN) in the perinuclear area and other compartments in the peripheral area of the cell. In mammalian cells
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ebc1958f7af85afaec8f1a8b88ee6e1
https://doi.org/10.1091/mbc.e21-06-0295
https://doi.org/10.1091/mbc.e21-06-0295
Publikováno v:
PLoS Pathogens, Vol 10, Iss 5, p e1004107 (2014)
Newly synthesized envelope glycoproteins of neuroinvasive viruses can be sorted in a polarized manner to the somatodendritic and/or axonal domains of neurons. Although critical for transneuronal spread of viruses, the molecular determinants and inter
Externí odkaz:
https://doaj.org/article/4cff45dbd36842ecb4a823d6c3ad0336
Publikováno v:
Biochemical Society transactions. 48(5)
Heterotetrameric adaptor protein (AP) complexes play key roles in protein sorting and transport vesicle formation in the endomembrane system of eukaryotic cells. One of these complexes, AP-4, was identified over 20 years ago but, up until recently, i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5ea36e06c5f3ff56570eb4b84bd8f8a
https://pubmed.ncbi.nlm.nih.gov/33084855
https://pubmed.ncbi.nlm.nih.gov/33084855
Publikováno v:
Current Opinion in Neurobiology. 51:103-110
Selective transport of transmembrane proteins to different intracellular compartments often involves the recognition of sorting signals in the cytosolic domains of the proteins by components of membrane coats. Some of these coats have as their key co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19e6925260bdeff380e37833922d4663
https://doi.org/10.1016/j.conb.2018.02.021
https://doi.org/10.1016/j.conb.2018.02.021
Autor:
Rafael Mattera, Tae-Un Han, Raffaella De Pace, Victoria Hoffmann, Grazia M.S. Mancini, Arianne M. Foster, Loreto Cuitino, Juan S. Bonifacino, Michal Jarnik, Miguel Skirzewski, Jeffrey Mercurio, H. Douglas Morris, Markus Damme, Andres Buonanno
Publikováno v:
PLoS Genetics, Vol 14, Iss 4, p e1007363 (2018)
PLoS Genetics (online), 14(4):e1007363. Public Library of Science
PLoS Genetics
PLoS Genetics (online), 14(4):e1007363. Public Library of Science
PLoS Genetics
The hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of disorders characterized by progressive lower limb spasticity. Mutations in subunits of the heterotetrameric (ε-β4-μ4-σ4) adaptor protein 4 (AP-4) com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3a80ad848dcf126d0cfb1ac50ba98cc
https://doi.org/10.1371/journal.pgen.1007363
https://doi.org/10.1371/journal.pgen.1007363
Publikováno v:
Proceedings of the National Academy of Sciences. 114
AP-4 is a member of the heterotetrameric adaptor protein (AP) complex family involved in protein sorting in the endomembrane system of eukaryotic cells. Interest in AP-4 has recently risen with the discovery that mutations in any of its four subunits
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7520c09d6a712ed8f18431d7325bef21
https://doi.org/10.1073/pnas.1717327114
https://doi.org/10.1073/pnas.1717327114