213 related articles for article (PubMed ID: 34605855)
1. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Marafi D; Fatih JM; Kaiyrzhanov R; Ferla MP; Gijavanekar C; Al-Maraghi A; Liu N; Sites E; Alsaif HS; Al-Owain M; Zakkariah M; El-Anany E; Guliyeva U; Guliyeva S; Gaba C; Haseeb A; Alhashem AM; Danish E; Karageorgou V; Beetz C; Subhi AA; Mullegama SV; Torti E; Sebastin M; Breilyn MS; Duberstein S; Abdel-Hamid MS; Mitani T; Du H; Rosenfeld JA; Jhangiani SN; Coban Akdemir Z; Gibbs RA; Taylor JC; Fakhro KA; Hunter JV; Pehlivan D; Zaki MS; Gleeson JG; Maroofian R; Houlden H; Posey JE; Sutton VR; Alkuraya FS; Elsea SH; Lupski JR
Brain; 2022 Apr; 145(3):909-924. PubMed ID: 34605855
[TBL] [Abstract][Full Text] [Related]
2. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Manivannan SN; Roovers J; Smal N; Myers CT; Turkdogan D; Roelens F; Kanca O; Chung HL; Scholz T; Hermann K; Bierhals T; Caglayan HS; Stamberger H; ; Mefford H; de Jonghe P; Yamamoto S; Weckhuysen S; Bellen HJ
Brain; 2022 Jun; 145(5):1684-1697. PubMed ID: 34788397
[TBL] [Abstract][Full Text] [Related]
3. Amino acid transporter SLC38A3 promotes metastasis of non-small cell lung cancer cells by activating PDK1.
Wang Y; Fu L; Cui M; Wang Y; Xu Y; Li M; Mi J
Cancer Lett; 2017 May; 393():8-15. PubMed ID: 28202352
[TBL] [Abstract][Full Text] [Related]
4. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
Marafi D; Mitani T; Isikay S; Hertecant J; Almannai M; Manickam K; Abou Jamra R; El-Hattab AW; Rajah J; Fatih JM; Du H; Karaca E; Bayram Y; Punetha J; Rosenfeld JA; Jhangiani SN; Boerwinkle E; Akdemir ZC; Erdin S; Hunter JV; Gibbs RA; Pehlivan D; Posey JE; Lupski JR
Ann Clin Transl Neurol; 2020 May; 7(5):610-627. PubMed ID: 32286009
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Loss of function mutation of the Slc38a3 glutamine transporter reveals its critical role for amino acid metabolism in the liver, brain, and kidney.
Chan K; Busque SM; Sailer M; Stoeger C; Bröer S; Daniel H; Rubio-Aliaga I; Wagner CA
Pflugers Arch; 2016 Feb; 468(2):213-27. PubMed ID: 26490457
[TBL] [Abstract][Full Text] [Related]
7. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
Punetha J; Karaca E; Gezdirici A; Lamont RE; Pehlivan D; Marafi D; Appendino JP; Hunter JV; Akdemir ZC; Fatih JM; Jhangiani SN; Gibbs RA; Innes AM; Posey JE; Lupski JR
Ann Clin Transl Neurol; 2019 Aug; 6(8):1395-1406. PubMed ID: 31402629
[TBL] [Abstract][Full Text] [Related]
8. Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.
Darras N; Ha TK; Rego S; Martin PM; Barroso E; Slavotinek AM; Cilio MR
Am J Med Genet A; 2019 Nov; 179(11):2190-2195. PubMed ID: 31465153
[TBL] [Abstract][Full Text] [Related]
9. Biallelic variants in
Maroofian R; Sedmík J; Mazaheri N; Scala M; Zaki MS; Keegan LP; Azizimalamiri R; Issa M; Shariati G; Sedaghat A; Beetz C; Bauer P; Galehdari H; O'Connell MA; Houlden H
J Med Genet; 2021 Jul; 58(7):495-504. PubMed ID: 32719099
[TBL] [Abstract][Full Text] [Related]
10. Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG; Aquilino M; Tinker RJ; Duncan L; Jenkins Z; Carvill GL; DeWard SJ; Grange DK; Hajianpour MJ; Halliday BJ; Holder-Espinasse M; Horvath J; Maitz S; Nigro V; Morleo M; Paul V; Spencer C; Esterhuizen AI; Polster T; Spano A; Gómez-Lozano I; Kumar A; Poke G; Phillips JA; Underhill HR; Gimenez G; Namba T; Robertson SP
Am J Hum Genet; 2024 Apr; 111(4):729-741. PubMed ID: 38579670
[TBL] [Abstract][Full Text] [Related]
11. A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.
Duan R; Saadi NW; Grochowski CM; Bhadila G; Faridoun A; Mitani T; Du H; Fatih JM; Jhangiani SN; Akdemir ZC; Gibbs RA; Pehlivan D; Posey JE; Marafi D; Lupski JR
Am J Med Genet A; 2021 Jul; 185(7):1972-1980. PubMed ID: 33797191
[TBL] [Abstract][Full Text] [Related]
12. A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual.
Maj M; Taylor CL; Landau K; Toriello HV; Li D; Bhoj EJ; Hakonarson H; Nelson B; Gluschitz S; Walker RH; Sobering AK
Mol Genet Genomic Med; 2023 Jan; 11(1):e2064. PubMed ID: 36148638
[TBL] [Abstract][Full Text] [Related]
13. A novel biallelic nonsense variant in SLC38A3 causing epileptic encephalopathy in an Indian family.
Alawbathani S; Khan S; Westenberger A; Beetz C; Lingappa L
Clin Genet; 2023 May; 103(5):609-611. PubMed ID: 36539921
[No Abstract] [Full Text] [Related]
14. Mutation of asparagine 76 in the center of glutamine transporter SNAT3 modulates substrate-induced conductances and Na+ binding.
Bröer S; Schneider HP; Bröer A; Deitmer JW
J Biol Chem; 2009 Sep; 284(38):25823-31. PubMed ID: 19596860
[TBL] [Abstract][Full Text] [Related]
15. Clinical report and genetic analysis of a Chinese patient with developmental and epileptic encephalopathy associated with novel biallelic variants in the ST3GAL3 gene.
Hu J; Liu J; Guo C; Duan Y; Liu C; Tan Y; Pan Y
Mol Genet Genomic Med; 2024 Jan; 12(1):e2322. PubMed ID: 37938134
[TBL] [Abstract][Full Text] [Related]
16. Perturbation of astroglial Slc38 glutamine transporters by NH
Hamdani EH; Popek M; Frontczak-Baniewicz M; Utheim TP; Albrecht J; Zielińska M; Chaudhry FA
FASEB J; 2021 Jul; 35(7):e21588. PubMed ID: 34169573
[TBL] [Abstract][Full Text] [Related]
17. Identification of
Leonardi E; Bettella E; Pelizza MF; Aspromonte MC; Polli R; Boniver C; Sartori S; Milani D; Murgia A
Front Neurol; 2020; 11():593446. PubMed ID: 33391157
[No Abstract] [Full Text] [Related]
18. Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
Efthymiou S; Dutra-Clarke M; Maroofian R; Kaiyrzhanov R; Scala M; Reza Alvi J; Sultan T; Christoforou M; Tuyet Mai Nguyen T; Mankad K; Vona B; Rad A; Striano P; Salpietro V; Guillen Sacoto MJ; Zaki MS; Gleeson JG; Campeau PM; Russell BE; Houlden H
Epilepsia; 2021 Feb; 62(2):e35-e41. PubMed ID: 33410539
[TBL] [Abstract][Full Text] [Related]
19. GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay.
Williams A; Cooney E; Segal G; Narayanan S; Morand M; Agadi S
Am J Med Genet A; 2022 Dec; 188(12):3546-3549. PubMed ID: 36121006
[TBL] [Abstract][Full Text] [Related]
20. SNAT3-mediated glutamine transport in perisynaptic astrocytes in situ is regulated by intracellular sodium.
Todd AC; Marx MC; Hulme SR; Bröer S; Billups B
Glia; 2017 Jun; 65(6):900-916. PubMed ID: 28272791
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
