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Showing results for brain troyer
Search for Brian Troyer instead (1 results)
The Troyer syndrome protein spartin mediates selective autophagy of lipid droplets.
Chung J, Park J, Lai ZW, Lambert TJ, Richards RC, Zhang J, Walther TC, Farese RV Jr. Chung J, et al. Nat Cell Biol. 2023 Aug;25(8):1101-1110. doi: 10.1038/s41556-023-01178-w. Epub 2023 Jul 13. Nat Cell Biol. 2023. PMID: 37443287 Free PMC article.
Here we identify spartin as a receptor localizing to LDs and interacting with core autophagy machinery, and we show that spartin is required to deliver LDs to lysosomes for triglyceride mobilization. Mutations in SPART (encoding spartin) lead to Troyer syndrome, a form of …
Here we identify spartin as a receptor localizing to LDs and interacting with core autophagy machinery, and we show that spartin is required …
Extracellular vesicles: The next generation in gene therapy delivery.
Cecchin R, Troyer Z, Witwer K, Morris KV. Cecchin R, et al. Mol Ther. 2023 May 3;31(5):1225-1230. doi: 10.1016/j.ymthe.2023.01.021. Epub 2023 Jan 25. Mol Ther. 2023. PMID: 36698310 Free article. Review.
At least in rodents, they can even transit challenging bodily hurdles such as the blood-brain barrier. Constitutively shed by all cells and with the potential to interact specifically with neighboring and distant targets, EVs can be engineered to carry and deliver therapeu …
At least in rodents, they can even transit challenging bodily hurdles such as the blood-brain barrier. Constitutively shed by all cel …
Molecular architecture determines brain delivery of a transferrin receptor-targeted lysosomal enzyme.
Arguello A, Mahon CS, Calvert MEK, Chan D, Dugas JC, Pizzo ME, Thomsen ER, Chau R, Damo LA, Duque J, Fang M, Giese T, Kim DJ, Liang N, Nguyen HN, Solanoy H, Tsogtbaatar B, Ullman JC, Wang J, Dennis MS, Diaz D, Gunasekaran K, Henne KR, Lewcock JW, Sanchez PE, Troyer MD, Harris JM, Scearce-Levie K, Shan L, Watts RJ, Thorne RG, Henry AG, Kariolis MS. Arguello A, et al. J Exp Med. 2022 Mar 7;219(3):e20211057. doi: 10.1084/jem.20211057. Epub 2022 Feb 28. J Exp Med. 2022. PMID: 35226042 Free PMC article.
Delivery of biotherapeutics across the blood-brain barrier (BBB) is a challenge. Many approaches fuse biotherapeutics to platforms that bind the transferrin receptor (TfR), a brain endothelial cell target, to facilitate receptor-mediated transcytosis across the BBB. …
Delivery of biotherapeutics across the blood-brain barrier (BBB) is a challenge. Many approaches fuse biotherapeutics to platforms th …
Troyer syndrome: a combination of central brain abnormality and motor neuron disease?
Auer-Grumbach M, Fazekas F, Radner H, Irmler A, Strasser-Fuchs S, Hartung HP. Auer-Grumbach M, et al. J Neurol. 1999 Jul;246(7):556-61. doi: 10.1007/s004150050403. J Neurol. 1999. PMID: 10463356
A variant with the additional features of severe atrophy of the small hand muscles, dysarthria, mental retardation, and short stature has been termed Troyer syndrome (MIM#275900) after the name of Old Order Amish families suffering from these symptoms. ...These findings ch …
A variant with the additional features of severe atrophy of the small hand muscles, dysarthria, mental retardation, and short stature has be …
Feedback regulation of ubiquitination and phase separation of HECT E3 ligases.
Li J, Zhu K, Gu A, Zhang Y, Huang S, Hu R, Hu W, Lei QY, Wen W. Li J, et al. Proc Natl Acad Sci U S A. 2023 Aug 15;120(33):e2302478120. doi: 10.1073/pnas.2302478120. Epub 2023 Aug 7. Proc Natl Acad Sci U S A. 2023. PMID: 37549262 Free PMC article.
Lipid homeostasis is essential for normal cellular functions and dysregulation of lipid metabolism is highly correlated with human diseases including neurodegenerative diseases. In the ubiquitin-dependent autophagic degradation pathway, Troyer syndrome-related protein Spar …
Lipid homeostasis is essential for normal cellular functions and dysregulation of lipid metabolism is highly correlated with human diseases …
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study; Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study; Férec C, Yang XJ… See abstract for full author list ➔ Cogné B, et al. Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827496 Free PMC article.
The first is a complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary system and characterized by a wide range of intellectual functioning; a number of affected individuals have intellectual disability (ID) an …
The first is a complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary …
Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.
Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH. Proukakis C, et al. J Neurol. 2004 Sep;251(9):1105-10. doi: 10.1007/s00415-004-0491-3. J Neurol. 2004. PMID: 15372254
Troyer syndrome, originally described in 1967 in an Old Order Amish population, is a complicated form of hereditary spastic paraplegia (HSP) inherited in an autosomal recessive fashion and slowly progressive. ...Imaging of the brain revealed white matter abnormaliti …
Troyer syndrome, originally described in 1967 in an Old Order Amish population, is a complicated form of hereditary spastic paraplegi …
White matter hyperintensities and smaller cortical thickness are associated with neuropsychiatric symptoms in neurodegenerative and cerebrovascular diseases.
Ozzoude M, Varriano B, Beaton D, Ramirez J, Adamo S, Holmes MF, Scott CJM, Gao F, Sunderland KM, McLaughlin P, Goubran M, Kwan D, Roberts A, Bartha R, Symons S, Tan B, Swartz RH, Abrahao A, Saposnik G, Masellis M, Lang AE, Marras C, Zinman L, Shoesmith C, Borrie M, Fischer CE, Frank A, Freedman M, Montero-Odasso M, Kumar S, Pasternak S, Strother SC, Pollock BG, Rajji TK, Seitz D, Tang-Wai DF, Turnbull J, Dowlatshahi D, Hassan A, Casaubon L, Mandzia J, Sahlas D, Breen DP, Grimes D, Jog M, Steeves TDL, Arnott SR, Black SE, Finger E, Rabin J; ONDRI Investigators; Tartaglia MC. Ozzoude M, et al. Alzheimers Res Ther. 2023 Jun 20;15(1):114. doi: 10.1186/s13195-023-01257-y. Alzheimers Res Ther. 2023. PMID: 37340319 Free PMC article.
BACKGROUND: Neuropsychiatric symptoms (NPS) are a core feature of most neurodegenerative and cerebrovascular diseases. White matter hyperintensities and brain atrophy have been implicated in NPS. We aimed to investigate the relative contribution of white matter hyperintens …
BACKGROUND: Neuropsychiatric symptoms (NPS) are a core feature of most neurodegenerative and cerebrovascular diseases. White matter hyperint …
The Troyer syndrome (SPG20) protein spartin interacts with Eps15.
Bakowska JC, Jenkins R, Pendleton J, Blackstone C. Bakowska JC, et al. Biochem Biophys Res Commun. 2005 Sep 9;334(4):1042-8. doi: 10.1016/j.bbrc.2005.06.201. Biochem Biophys Res Commun. 2005. PMID: 16036216
Using a yeast two-hybrid approach, we screened an adult human brain library for binding partners of spartin. We identified Eps15, a protein known to be involved in endocytosis and the control of cell proliferation. ...Our results suggest that spartin might be involved in e …
Using a yeast two-hybrid approach, we screened an adult human brain library for binding partners of spartin. We identified Eps15, a p …
125 results