Wong, Hui Hui et al. published their research in American Journal of Human Genetics in 2021 | CAS: 11024-24-1

Digitonin (cas: 11024-24-1) belongs to tetrahydropyran derivatives. Tetrahydropyran is an important raw material and intermediate used in Organic Synthesis, Pharmaceuticals, Agrochemicals and dyestuff. The Prins reaction of homoallylic alcohols with aldehydes afforded an alternative method for the preparation of tetrahydropyrans.COA of Formula: C56H92O29

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy was written by Wong, Hui Hui;Seet, Sze Hwee;Maier, Michael;Gurel, Ayse;Traspas, Ricardo Moreno;Lee, Cheryl;Zhang, Shan;Talim, Beril;Loh, Abigail Y. T.;Chia, Crystal Y.;Teoh, Tze Shin;Sng, Danielle;Rensvold, Jarred;Unal, Sule;Shishkova, Evgenia;Cepni, Ece;Nathan, Fatima M.;Sirota, Fernanda L.;Liang, Chao;Yarali, Nese;Simsek-Kiper, Pelin O.;Mitani, Tadahiro;Ceylaner, Serdar;Arman-Bilir, Ozlem;Mbarek, Hamdi;Gumruk, Fatma;Efthymiou, Stephanie;Ugurlu Cimen, Deniz;Georgiadou, Danai;Sotiropoulou, Kortessa;Houlden, Henry;Paul, Franziska;Pehlivan, Davut;Laine, Candice;Chai, Guoliang;Ali, Nur Ain;Choo, Siew Chin;Keng, Soh Sok;Boisson, Bertrand;Yilmaz, Elanur;Xue, Shifeng;Coon, Joshua J.;Ly, Thanh Thao Nguyen;Gilani, Naser;Hasbini, Dana;Kayserili, Hulya;Zaki, Maha;Isfort, Robert J.;Ordonez, Natalia;Tripolszki, Kornelia;Bauer, Peter;Rezaei, Nima;Seyedpour, Simin;Khotaei, Ghamar Taj;Bascom, Charles C.;Maroofian, Reza;Chaabouni, Myriam;Alsubhi, Afaf;Eyaid, Wafaa;Isikay, Sedat;Gleeson, Joseph G.;Lupski, James R.;Casanova, Jean-Laurent;Pagliarini, David J.;Akarsu, Nurten A.;Maurer-Stroh, Sebastian;Cetinkaya, Arda;Bertoli-Avella, Aida;Mathuru, Ajay S.;Ho, Lena;Bard, Frederic A.;Reversade, Bruno. And the article was included in American Journal of Human Genetics in 2021.COA of Formula: C56H92O29 This article mentions the following:

Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we report eight unrelated families from which 20 children presented with a fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. C2ORF69 bears homol. to esterase enzymes, and orthologs can be found in most eukaryotic genomes, including that of unicellular phytoplankton. We found that endogenous C2ORF69 (1) is loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen storage-associated mitochondriopathy. We show that CRISPR-Cas9-mediated inactivation of zebrafish C2orf69 results in lethality by 8 mo of age due to spontaneous epileptic seizures, which is preceded by persistent brain inflammation. Collectively, our results delineate an autoinflammatory Mendelian disorder of C2orf69 deficiency that disrupts the development/homeostasis of the immune and central nervous systems. In the experiment, the researchers used many compounds, for example, Digitonin (cas: 11024-24-1COA of Formula: C56H92O29).

Digitonin (cas: 11024-24-1) belongs to tetrahydropyran derivatives. Tetrahydropyran is an important raw material and intermediate used in Organic Synthesis, Pharmaceuticals, Agrochemicals and dyestuff. The Prins reaction of homoallylic alcohols with aldehydes afforded an alternative method for the preparation of tetrahydropyrans.COA of Formula: C56H92O29

Referemce:
Tetrahydropyran – Wikipedia,
Tetrahydropyran – an overview | ScienceDirect Topics