These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis. Tsuboi M; Watanabe M; Nibe K; Yoshimi N; Kato A; Sakaguchi M; Yamato O; Tanaka M; Kuwamura M; Kushida K; Ishikura T; Harada T; Chambers JK; Sugano S; Uchida K; Nakayama H PLoS One; 2017; 12(1):e0169002. PubMed ID: 28107443 [TBL] [Abstract][Full Text] [Related]
6. Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. Agler C; Nielsen DM; Urkasemsin G; Singleton A; Tonomura N; Sigurdsson S; Tang R; Linder K; Arepalli S; Hernandez D; Lindblad-Toh K; van de Leemput J; Motsinger-Reif A; O'Brien DP; Bell J; Harris T; Steinberg S; Olby NJ PLoS Genet; 2014 Feb; 10(2):e1003991. PubMed ID: 24516392 [TBL] [Abstract][Full Text] [Related]
7. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Oz-Levi D; Ben-Zeev B; Ruzzo EK; Hitomi Y; Gelman A; Pelak K; Anikster Y; Reznik-Wolf H; Bar-Joseph I; Olender T; Alkelai A; Weiss M; Ben-Asher E; Ge D; Shianna KV; Elazar Z; Goldstein DB; Pras E; Lancet D Am J Hum Genet; 2012 Dec; 91(6):1065-72. PubMed ID: 23176824 [TBL] [Abstract][Full Text] [Related]
8. Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2. Fraiberg M; Tamim-Yecheskel BC; Kokabi K; Subic N; Heimer G; Eck F; Nalbach K; Behrends C; Ben-Zeev B; Shatz O; Elazar Z Autophagy; 2021 Oct; 17(10):3096-3108. PubMed ID: 33213269 [TBL] [Abstract][Full Text] [Related]
9. Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds. Ahram DF; Grozdanic SD; Kecova H; Henkes A; Collin RW; Kuehn MH PLoS One; 2015; 10(5):e0126660. PubMed ID: 25938837 [TBL] [Abstract][Full Text] [Related]
10. WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease. Covone AE; Fiorillo C; Acquaviva M; Trucco F; Morana G; Ravazzolo R; Minetti C Clin Genet; 2016 Aug; 90(2):182-5. PubMed ID: 27406698 [TBL] [Abstract][Full Text] [Related]
11. Clinicopathological features of canine neuroaxonal dystrophy and cerebellar cortical abiotrophy in Papillon and Papillon-related dogs. Nibe K; Kita C; Morozumi M; Awamura Y; Tamura S; Okuno S; Kobayashi T; Uchida K J Vet Med Sci; 2007 Oct; 69(10):1047-52. PubMed ID: 17984592 [TBL] [Abstract][Full Text] [Related]
12. The copper chaperone Atox1 in canine copper toxicosis in Bedlington terriers. Nanji MS; Cox DW Genomics; 1999 Nov; 62(1):108-12. PubMed ID: 10585777 [TBL] [Abstract][Full Text] [Related]
13. A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease. Kyöstilä K; Syrjä P; Jagannathan V; Chandrasekar G; Jokinen TS; Seppälä EH; Becker D; Drögemüller M; Dietschi E; Drögemüller C; Lang J; Steffen F; Rohdin C; Jäderlund KH; Lappalainen AK; Hahn K; Wohlsein P; Baumgärtner W; Henke D; Oevermann A; Kere J; Lohi H; Leeb T PLoS Genet; 2015 Apr; 11(4):e1005169. PubMed ID: 25875846 [TBL] [Abstract][Full Text] [Related]
14. Whole-Genome Sequencing of a Canine Family Trio Reveals a FAM83G Variant Associated with Hereditary Footpad Hyperkeratosis. Sayyab S; Viluma A; Bergvall K; Brunberg E; Jagannathan V; Leeb T; Andersson G; Bergström TF G3 (Bethesda); 2016 Jan; 6(3):521-7. PubMed ID: 26747202 [TBL] [Abstract][Full Text] [Related]
15. Pathological findings in a Dachshund-cross dog with neuroaxonal dystrophy. Pintus D; Cancedda MG; Macciocu S; Contu C; Ligios C Acta Vet Scand; 2016 Jun; 58(1):37. PubMed ID: 27267214 [TBL] [Abstract][Full Text] [Related]
16. Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Neuser S; Brechmann B; Heimer G; Brösse I; Schubert S; O'Grady L; Zech M; Srivastava S; Sweetser DA; Dincer Y; Mall V; Winkelmann J; Behrends C; Darras BT; Graham RJ; Jayakar P; Byrne B; Bar-Aluma BE; Haberman Y; Szeinberg A; Aldhalaan HM; Hashem M; Al Tenaiji A; Ismayl O; Al Nuaimi AE; Maher K; Ibrahim S; Khan F; Houlden H; Ramakumaran VS; Pagnamenta AT; Posey JE; Lupski JR; Tan WH; ElGhazali G; Herman I; Muñoz T; Repetto GM; Seitz A; Krumbiegel M; Poli MC; Kini U; Efthymiou S; Meiler J; Maroofian R; Alkuraya FS; Abou Jamra R; Popp B; Ben-Zeev B; Ebrahimi-Fakhari D Hum Mutat; 2021 Jun; 42(6):762-776. PubMed ID: 33847017 [TBL] [Abstract][Full Text] [Related]
18. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. Kyöstilä K; Cizinauskas S; Seppälä EH; Suhonen E; Jeserevics J; Sukura A; Syrjä P; Lohi H PLoS Genet; 2012; 8(6):e1002759. PubMed ID: 22719266 [TBL] [Abstract][Full Text] [Related]
19. Ultrastructural features of canine neuroaxonal dystrophy in a Papillon dog. Tanaka M; Yamaguchi S; Akiyoshi H; Tsuboi M; Uchida K; Izawa T; Yamate J; Kuwamura M J Vet Med Sci; 2017 Dec; 79(12):1927-1930. PubMed ID: 28993562 [TBL] [Abstract][Full Text] [Related]