181 related articles for article (PubMed ID: 37324589)
1. The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in
Pannone L; Muto V; Nardecchia F; Di Rocco M; Marchei E; Tosato F; Petrini S; Onorato G; Lanza E; Bertuccini L; Manti F; Folli V; Galosi S; Di Schiavi E; Leuzzi V; Tartaglia M; Martinelli S
Front Mol Neurosci; 2023; 16():1170061. PubMed ID: 37324589
[No Abstract] [Full Text] [Related]
2. Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.
Manti F; Nardecchia F; Barresi S; Venditti M; Pizzi S; Hamdan FF; Blau N; Burlina A; Tartaglia M; Leuzzi V
Parkinsonism Relat Disord; 2019 Apr; 61():207-210. PubMed ID: 30337205
[TBL] [Abstract][Full Text] [Related]
3. Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.
Di Rocco M; Galosi S; Lanza E; Tosato F; Caprini D; Folli V; Friedman J; Bocchinfuso G; Martire A; Di Schiavi E; Leuzzi V; Martinelli S
Hum Mol Genet; 2022 Mar; 31(6):929-941. PubMed ID: 34622282
[TBL] [Abstract][Full Text] [Related]
4. Paradigms for pharmacological characterization of C. elegans synaptic transmission mutants.
Locke C; Berry K; Kautu B; Lee K; Caldwell K; Caldwell G
J Vis Exp; 2008 Aug; (18):. PubMed ID: 19066504
[TBL] [Abstract][Full Text] [Related]
5. A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Helbig I; Lopez-Hernandez T; Shor O; Galer P; Ganesan S; Pendziwiat M; Rademacher A; Ellis CA; Hümpfer N; Schwarz N; Seiffert S; Peeden J; Shen J; Štěrbová K; Hammer TB; Møller RS; Shinde DN; Tang S; Smith L; Poduri A; Krause R; Benninger F; Helbig KL; Haucke V; Weber YG; ;
Am J Hum Genet; 2019 Jun; 104(6):1060-1072. PubMed ID: 31104773
[TBL] [Abstract][Full Text] [Related]
6. Differential requirements for clathrin in receptor-mediated endocytosis and maintenance of synaptic vesicle pools.
Sato K; Ernstrom GG; Watanabe S; Weimer RM; Chen CH; Sato M; Siddiqui A; Jorgensen EM; Grant BD
Proc Natl Acad Sci U S A; 2009 Jan; 106(4):1139-44. PubMed ID: 19151157
[TBL] [Abstract][Full Text] [Related]
7. Endophilin A and B Join Forces With Clathrin to Mediate Synaptic Vesicle Recycling in
Yu SC; Jánosi B; Liewald JF; Wabnig S; Gottschalk A
Front Mol Neurosci; 2018; 11():196. PubMed ID: 29962934
[TBL] [Abstract][Full Text] [Related]
8. De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.
Nabais Sá MJ; Venselaar H; Wiel L; Trimouille A; Lasseaux E; Naudion S; Lacombe D; Piton A; Vincent-Delorme C; Zweier C; Reis A; Trollmann R; Ruiz A; Gabau E; Vetro A; Guerrini R; Bakhtiari S; Kruer MC; Amor DJ; Cooper MS; Bijlsma EK; Barakat TS; van Dooren MF; van Slegtenhorst M; Pfundt R; Gilissen C; Willemsen MA; de Vries BBA; de Brouwer APM; Koolen DA
Genet Med; 2020 Apr; 22(4):797-802. PubMed ID: 31776469
[TBL] [Abstract][Full Text] [Related]
9. De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
Platzer K; Sticht H; Bupp C; Ganapathi M; Pereira EM; Le Guyader G; Bilan F; Henderson LB; Lemke JR; Taschenberger H; Brose N; Abou Jamra R; Wojcik SM
Ann Neurol; 2022 Dec; 92(6):958-973. PubMed ID: 36073542
[TBL] [Abstract][Full Text] [Related]
10. UNC-18 and Tomosyn Antagonistically Control Synaptic Vesicle Priming Downstream of UNC-13 in
Park S; Bin NR; Yu B; Wong R; Sitarska E; Sugita K; Ma K; Xu J; Tien CW; Algouneh A; Turlova E; Wang S; Siriya P; Shahid W; Kalia L; Feng ZP; Monnier PP; Sun HS; Zhen M; Gao S; Rizo J; Sugita S
J Neurosci; 2017 Sep; 37(36):8797-8815. PubMed ID: 28821673
[TBL] [Abstract][Full Text] [Related]
11. Synaptic exocytosis and nervous system development impaired in Caenorhabditis elegans unc-13 mutants.
Maruyama H; Rakow TL; Maruyama IN
Neuroscience; 2001; 104(2):287-97. PubMed ID: 11377834
[TBL] [Abstract][Full Text] [Related]
12. ITSN-1 controls vesicle recycling at the neuromuscular junction and functions in parallel with DAB-1.
Wang W; Bouhours M; Gracheva EO; Liao EH; Xu K; Sengar AS; Xin X; Roder J; Boone C; Richmond JE; Zhen M; Egan SE
Traffic; 2008 May; 9(5):742-54. PubMed ID: 18298590
[TBL] [Abstract][Full Text] [Related]
13. Defective recycling of synaptic vesicles in synaptotagmin mutants of Caenorhabditis elegans.
Jorgensen EM; Hartwieg E; Schuske K; Nonet ML; Jin Y; Horvitz HR
Nature; 1995 Nov; 378(6553):196-9. PubMed ID: 7477324
[TBL] [Abstract][Full Text] [Related]
14. Mu2 adaptin facilitates but is not essential for synaptic vesicle recycling in Caenorhabditis elegans.
Gu M; Schuske K; Watanabe S; Liu Q; Baum P; Garriga G; Jorgensen EM
J Cell Biol; 2008 Dec; 183(5):881-92. PubMed ID: 19047463
[TBL] [Abstract][Full Text] [Related]
15. The C2H2 zinc-finger protein SYD-9 is a putative posttranscriptional regulator for synaptic transmission.
Wang Y; Gracheva EO; Richmond J; Kawano T; Couto JM; Calarco JA; Vijayaratnam V; Jin Y; Zhen M
Proc Natl Acad Sci U S A; 2006 Jul; 103(27):10450-10455. PubMed ID: 16803962
[TBL] [Abstract][Full Text] [Related]
16. Altered Function of the DnaJ Family Cochaperone DNJ-17 Modulates Locomotor Circuit Activity in a Caenorhabditis elegans Seizure Model.
Takayanagi-Kiya S; Jin Y
G3 (Bethesda); 2016 Jul; 6(7):2165-71. PubMed ID: 27185401
[TBL] [Abstract][Full Text] [Related]
17. UEV-1 is an ubiquitin-conjugating enzyme variant that regulates glutamate receptor trafficking in C. elegans neurons.
Kramer LB; Shim J; Previtera ML; Isack NR; Lee MC; Firestein BL; Rongo C
PLoS One; 2010 Dec; 5(12):e14291. PubMed ID: 21179194
[TBL] [Abstract][Full Text] [Related]
18. UNC-11, a Caenorhabditis elegans AP180 homologue, regulates the size and protein composition of synaptic vesicles.
Nonet ML; Holgado AM; Brewer F; Serpe CJ; Norbeck BA; Holleran J; Wei L; Hartwieg E; Jorgensen EM; Alfonso A
Mol Biol Cell; 1999 Jul; 10(7):2343-60. PubMed ID: 10397769
[TBL] [Abstract][Full Text] [Related]
19. SYT1-associated neurodevelopmental disorder: a case series.
Baker K; Gordon SL; Melland H; Bumbak F; Scott DJ; Jiang TJ; Owen D; Turner BJ; Boyd SG; Rossi M; Al-Raqad M; Elpeleg O; Peck D; Mancini GMS; Wilke M; Zollino M; Marangi G; Weigand H; Borggraefe I; Haack T; Stark Z; Sadedin S; ; Tan TY; Jiang Y; Gibbs RA; Ellingwood S; Amaral M; Kelley W; Kurian MA; Cousin MA; Raymond FL
Brain; 2018 Sep; 141(9):2576-2591. PubMed ID: 30107533
[TBL] [Abstract][Full Text] [Related]
20. UNC-41/stonin functions with AP2 to recycle synaptic vesicles in Caenorhabditis elegans.
Mullen GP; Grundahl KM; Gu M; Watanabe S; Hobson RJ; Crowell JA; McManus JR; Mathews EA; Jorgensen EM; Rand JB
PLoS One; 2012; 7(7):e40095. PubMed ID: 22808098
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
