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Page 1
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akematsu T, Akporiaye ET, Al-Rubeai M, Albaiceta GM, Albanese C, Albani D, Albert ML, Aldudo J, Algül H, Alirezaei M, Alloza I, Almasan A, Almonte-Beceril M, Alnemri ES, Alonso C, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Andrieu-Abadie N, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, Avantaggiati ML, Avrahami L, Awale S, Azad N, Bachetti T, Backer JM, Bae DH, Bae JS, Bae ON, Bae SH, Baehrecke EH, Baek SH, Baghdiguian S, Bagniewska-Zadworna A, Bai H, Bai J, Bai XY, Bailly Y, Balaji KN, … See abstract for full author list ➔ Klionsky DJ, et al. Autophagy. 2016;12(1):1-222. doi: 10.1080/15548627.2015.1100356. Autophagy. 2016. PMID: 26799652 Free PMC article. No abstract available.
Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario.
Ferrand A, Siu VM, Rupar CA, Napier MP, Al-Dirbashi OY, Chakraborty P, Prasad C. Ferrand A, et al. JIMD Rep. 2015;18:69-77. doi: 10.1007/8904_2014_351. Epub 2014 Oct 12. JIMD Rep. 2015. PMID: 25308559 Free PMC article.
Intrinsic factor deficiency (OMIM #261000, IFD) is a rare inherited disorder of vitamin B12 metabolism due to mutations in the gastric intrinsic factor (GIF) gene.We report three individuals from an Old Order Mennonite community who presented with B12 deficiency. ...Mutati …
Intrinsic factor deficiency (OMIM #261000, IFD) is a rare inherited disorder of vitamin B12 metabolism due to mutations in the gastric intri …
Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns.
Tanner SM, Sturm AC, Baack EC, Liyanarachchi S, de la Chapelle A. Tanner SM, et al. Orphanet J Rare Dis. 2012 Aug 28;7:56. doi: 10.1186/1750-1172-7-56. Orphanet J Rare Dis. 2012. PMID: 22929189 Free PMC article.
Patients and their families have been accrued over a period spanning >12 years. Systematic genetic testing of the three genes CUBN, AMN, and GIF was accomplished using a combination of single strand conformation polymorphism and DNA and RNA sequencing. ...Fifty-t …
Patients and their families have been accrued over a period spanning >12 years. Systematic genetic testing of the three genes CUBN, AM …
An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs.
Fyfe JC, Hemker SL, Venta PJ, Fitzgerald CA, Outerbridge CA, Myers SL, Giger U. Fyfe JC, et al. Mol Genet Metab. 2013 Aug;109(4):390-6. doi: 10.1016/j.ymgme.2013.05.006. Epub 2013 May 22. Mol Genet Metab. 2013. PMID: 23746554 Free PMC article.
Cobalamin malabsorption accompanied by selective proteinuria is an autosomal recessive disorder known as Imerslund-Grasbeck syndrome in humans and was previously described in dogs due to amnionless (AMN) mutations. The resultant vitamin B12 deficiency causes dyshematopoies …
Cobalamin malabsorption accompanied by selective proteinuria is an autosomal recessive disorder known as Imerslund-Grasbeck syndrome in huma …
X-Ray Nanothermometry of Nanoparticles in Tumor-Mimicking Tissues under Photothermia.
López-Méndez R, Reguera J, Fromain A, Serea ESA, Céspedes E, Teran FJ, Zheng F, Parente A, García MÁ, Fonda E, Camarero J, Wilhelm C, Muñoz-Noval Á, Espinosa A. López-Méndez R, et al. Adv Healthc Mater. 2023 Dec;12(31):e2301863. doi: 10.1002/adhm.202301863. Epub 2023 Aug 10. Adv Healthc Mater. 2023. PMID: 37463675
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.
Tanner SM, Li Z, Perko JD, Oner C, Cetin M, Altay C, Yurtsever Z, David KL, Faivre L, Ismail EA, Gräsbeck R, de la Chapelle A. Tanner SM, et al. Proc Natl Acad Sci U S A. 2005 Mar 15;102(11):4130-3. doi: 10.1073/pnas.0500517102. Epub 2005 Feb 28. Proc Natl Acad Sci U S A. 2005. PMID: 15738392 Free PMC article.
Biallelic mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS. In a series of families clinically diagnosed with likely IGS, at least six displayed no evidence of mutations in CUBN or AMN. ...In the diagnosis of juvenile cobalamin deficiency, m …
Biallelic mutations either in the cubilin (CUBN) or amnionless (AMN) gene cause IGS. In a series of families clinically diagnosed wit …
Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan.
Al-Alami JR, Tanner SM, Tayeh MK, de la Chapelle A, El-Shanti H. Al-Alami JR, et al. Saudi Med J. 2005 Jul;26(7):1061-4. Saudi Med J. 2005. PMID: 16047053
At that time, the amnionless (AMN) gene was not yet known to implicate in megaloblastic anemia. In this study, we screened the AMN for mutations in the Ohio State University, Iowa, United States of America. ...
At that time, the amnionless (AMN) gene was not yet known to implicate in megaloblastic anemia. In this study, we screened the AMN …
Regulation by miR181 family of the dependence receptor CDON tumor suppressive activity in neuroblastoma.
Gibert B, Delloye-Bourgeois C, Gattolliat CH, Meurette O, Le Guernevel S, Fombonne J, Ducarouge B, Lavial F, Bouhallier F, Creveaux M, Negulescu AM, Bénard J, Janoueix-Lerosey I, Harel-Bellan A, Delattre O, Mehlen P. Gibert B, et al. J Natl Cancer Inst. 2014 Oct 13;106(11):dju318. doi: 10.1093/jnci/dju318. Print 2014 Nov. J Natl Cancer Inst. 2014. PMID: 25313246
Mutations affecting the cAMP transduction pathway disrupt the centrophobism behavior.
Lebreton S, Martin JR. Lebreton S, et al. J Neurogenet. 2009;23(1-2):225-34. doi: 10.1080/01677060802509160. J Neurogenet. 2009. PMID: 19306211
Here, we report that disturbing this pathway by using different mutants, such as dnc, rut, PKA, or amn, lead to centrophobism defect. Moreover, we found that the P[GAL4]C316 flies, used to rescue the amn mutant phenotype, like those previously reported for the learn …
Here, we report that disturbing this pathway by using different mutants, such as dnc, rut, PKA, or amn, lead to centrophobism defect. …