Smith-Magenis and Potocki-Lupski syndrome copy number variation (WP5381)

Homo sapiens

The Smith-Magenis syndrome, is the result from a deletion of chr17:chr17:16,82-18,28, while the Potocki-Lupski syndrome is the result of a duplication of this area.

Authors

Ninagerrekens , Egon Willighagen , Ash Iyer , Friederike Ehrhart , Kristina Hanspers , and Lars Willighagen

Activity

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Organisms

Homo sapiens

Communities

Annotations

Pathway Ontology

disease pathway

Participants

Label Type Compact URI Comment
Thymine Metabolite chebi:17821
PDME Metabolite chebi:64572
phosphatidate Metabolite chebi:57739
PE Metabolite chebi:16038
Uracil Metabolite chebi:17568
cardiolipin Metabolite chebi:28494
diacylglycerol Metabolite chebi:85694
ROS Metabolite chebi:26523
mRNA Metabolite chebi:33699
cortisol Metabolite chebi:17650
Zinc 2+ Metabolite chebi:29105
one-carbon compound Metabolite chebi:64708
L-serine Metabolite chebi:33384
melatonin Metabolite chebi:16796
glycine Metabolite chebi:57305
Magnesium 2+ Metabolite chebi:18420
pyridoxal 5'-phosphate(2-) Metabolite chebi:597326 cofactor
mRNA Metabolite chebi:33699 demethylation of N6-methyladenosine (m6A)
Uracil Metabolite chebi:17568
Thymine Metabolite chebi:17821
Zinc 2+ Metabolite chebi:29105
PMME Metabolite chebi:64573
phosphatidylcholine Metabolite chebi:64482
LRRC48 GeneProduct ensembl:ENSG00000171962
MPRIP GeneProduct ensembl:ENSG00000133030 KIAA0864, M-RIP, MRIP, RHOIP3, RIP3, p116Rip are other names for MPRIP
PEMT GeneProduct ensembl:ENSG00000133027
NT5M GeneProduct ensembl:ENSG00000205309
TNFRSF13B GeneProduct ensembl:ENSG00000240505 CD267, CVID, CVID2, RYZN, TACI, TNFRSF14B are synonyms
expressed on CD27+ B memory cells
receptor for TNFSF 13 and BAFF
COPS3 GeneProduct ensembl:ENSG00000141030
ATPAF2 GeneProduct ensembl:ENSG00000171953
RAI1 GeneProduct ensembl:ENSG00000108557
GID4 GeneProduct ensembl:ENSG00000141034
ALKBH5 GeneProduct ensembl:ENSG00000091542
DRG2 GeneProduct ensembl:ENSG00000108591
MIEF2 GeneProduct ensembl:ENSG00000177427 outer mitochondrial membrane
TOP3A GeneProduct ensembl:ENSG00000177302
FLII GeneProduct ensembl:ENSG00000177731
RASD1 GeneProduct ensembl:ENSG00000108551
TOM1L2 GeneProduct ensembl:ENSG00000175662
FLCN GeneProduct ensembl:ENSG00000154803
MYO15A GeneProduct ensembl:ENSG00000091536 expressed in hair cells of the inner ear
SREBF1 GeneProduct ensembl:ENSG00000072310
MED9 GeneProduct ensembl:ENSG00000141026
LLGL1 GeneProduct ensembl:ENSG00000131899
SHMT1 GeneProduct ensembl:ENSG00000176974
SMCR8 GeneProduct ensembl:ENSG00000176994
Y RNA GeneProduct ensembl:ENSG00000201378 misc RNA
MIR33B GeneProduct ensembl:ENSG00000207839 MiRNA
SMCR5 GeneProduct ensembl:ENSG00000226746 antisense
SMCR2 GeneProduct ensembl:ENSG00000223979 LincRNA
RP11-45M22.4 GeneProduct ensembl:ENSG00000264187
PLD6 GeneProduct ensembl:ENSG00000179598 ZUC and MitoPLD are different names for PLD6
Type your comment here
TNFRSF13B GeneProduct ensembl:ENSG00000240505 CD267, CVID, CVID2, RYZN, TACI, TNFRSF14B are synonyms
expressed on CD27+ B memory cells
receptor for TNFSF 13 and BAFF
TNFRSF13B GeneProduct ensembl:ENSG00000240505 CD267, CVID, CVID2, RYZN, TACI, TNFRSF14B are synonyms
expressed on CD27+ B memory cells
receptor for TNFSF 13 and BAFF
FLCN GeneProduct ensembl:ENSG00000154803
FLCN GeneProduct ensembl:ENSG00000154803
MED9 GeneProduct ensembl:ENSG00000141026
IRF8 Protein uniprot:Q02556
ITPK1 Protein uniprot:Q13572
JUN Protein uniprot:P05412
TFE3 Protein uniprot:P19532
TFEB Protein uniprot:P19484
PTEN Protein uniprot:P60484
CRY1 Protein ncbigene:1407
CREB1 Protein ensembl:ENSG00000118260
STAT3 Protein uniprot:P40763
TFEB Protein uniprot:P19484
lipin family Protein interpro:IPR026058
LDHA Protein uniprot:P00338
PRKAA1 Protein uniprot:Q13131
UBP8 Protein uniprot:P40818
TFE3 Protein uniprot:P19532
FHOD1 Protein uniprot:Q9Y613
AP-1 family Protein uniprot:IPR000837
MLST8 Protein uniprot:Q9BVC4
RRAGA Protein uniprot:Q7L523
APP Protein uniprot:P05067
FE65 Protein uniprot:O00213
YAP1 Protein uniprot:P46937
MIGA1 Protein uniprot:Q8NAN2
MYC Protein uniprot:P01106
TP53 Protein uniprot:P04637
CARM1 Protein uniprot:Q86X55
MAEA Protein uniprot:Q7L5Y9
DRC1 Protein uniprot:Q96MC2
PRKN Protein uniprot:O60260
C9ORF72 Protein uniprot:Q96LT7
NR1H3 Protein uniprot:Q13133
TLR4 Protein uniprot:O00206
RAB8A Protein uniprot:P61006
MLST8 Protein uniprot:Q9BVC4
RNF41 Protein uniprot:Q9H4P4
NFKB1 Protein uniprot:P19838
IFT81 Protein uniprot:Q8WYA0
PCK1 Protein uniprot:P35558
NR1H2 Protein uniprot:P55055
TOLLIP Protein uniprot:Q9H0E2
WDR41 Protein uniprot:Q9HAD4
RO60 Protein ensembl:P10155
MYH2 Protein uniprot:Q9UKX2
CLTC Protein uniprot:Q00610
TNF Protein uniprot:P01375
GRIP1 Protein uniprot:Q9Y3R0
PARD6B Protein uniprot:Q9BYG5
CLTA Protein uniprot:P09496
SREB2 Protein uniprot:P60893
HBP1 Protein uniprot:O60381
MYO16 Protein uniprot:Q9Y6X6
ARG2 Protein uniprot:P78540
SMCR8 Protein uniprot:Q8TEV9
DRP1 Protein uniprot:O43583
GDI2 Protein uniprot:P50395
FOXA1 Protein uniprot:P55317
FNIP2 Protein uniprot:Q9P278
MAP3K14 Protein uniprot:Q99558 NIK is short for NF-κB-inducing kinase
MYPT1 Protein uniprot:O14974
BAFF Protein uniprot:Q8JHJ4 Blys is a synonym
PRDM1 Protein uniprot:O75626
BAX Protein uniprot:Q07812
CLEC16A Protein uniprot:Q2KHT3
CFL2 Protein uniprot:Q9Y281
CRY1 Protein uniprot:Q16526
BCL2L11 Protein uniprot:O43521 also known as BCL2L11
CRY2 Protein uniprot:Q49AN0
PER1 Protein uniprot:O15534
CRY2 Protein ncbigene:1408
PER1 Protein ncbigene:5187
ROCK1 Protein uniprot:Q13464
LIMK1 Protein uniprot:P53667
BML Protein uniprot:P54132
TNFSF13 Protein uniprot:O75888 APRIL is a synonym of TNFSF13
RMI2 Protein uniprot:Q96E14
RMI1 Protein uniprot:Q9H9A7
TOP3A Protein uniprot:Q13472
BMAL1 Protein uniprot:O00327
RhoA Protein uniprot:P61586
CDK1 Protein uniprot:P06493
BIRC2 Protein uniprot:E9PI77 cIAP-1 is a synonym for BIRC2
BCL6 Protein uniprot:A0A0C4DH53
CFL2 Protein uniprot:Q9Y281
CLOCK Protein uniprot:O15516
PRKN Protein uniprot:O60260
RAB8A Protein uniprot:P61006
RAB39B Protein uniprot:Q96DA2
RAB39B Protein uniprot:Q96DA2
ULK1 Protein uniprot:O75385
RB1CC1 Protein uniprot:Q8TDY2 FIP200
ATG13 Protein uniprot:O75143
ATG101 Protein uniprot:Q9BSB4
RPTOR Protein uniprot:Q8N122
MTOR Protein uniprot:P42345
MYD88 Protein uniprot:Q99836
MYD88 Protein uniprot:Q99836
RELA Protein uniprot:Q04206
IL1B Protein uniprot:P01584 proinflammatory cytokine
PRKCI Protein uniprot:P41743
PARD3 Protein uniprot:Q8TEW0
RAB10 Protein uniprot:P61026
RAB10 Protein uniprot:P61026
DRC3 Protein uniprot:Q9H069 Is protein of LRRC48
CCDC65 Protein uniprot:Q8IXS2
GAS8 Protein uniprot:O95995
TCTE1 Protein uniprot:Q5JU00
FBXL13 Protein uniprot:Q8NEE6
DRC7 Protein uniprot:Q8IY82
EFCAB2 Protein uniprot:Q5VUJ9
IQCG Protein uniprot:Q9H095
IQCD Protein uniprot:Q96DY2
IQCA1 Protein uniprot:Q86XH1
IFT74 Protein uniprot:Q96LB3
IFT22 Protein uniprot:Q9H7X7
IFT22 Protein uniprot:Q9H7X7
IFT81 Protein uniprot:Q8WYA0
IFT74 Protein uniprot:Q96LB3
TTC26 Protein uniprot:A0AVF1
IFT46 Protein uniprot:Q9NQC8
IFT52 Protein uniprot:Q9Y366
IFT172 Protein uniprot:Q9UG01
IFT80 Protein uniprot:Q9P2H3
IFT88 Protein uniprot:Q13099
TTC30B Protein uniprot:Q8N4P2
IFT57 Protein uniprot:Q9NWB7
CLUAP1 Protein uniprot:Q96AJ1
IFT20 Protein uniprot:Q8IY31
IFT27 Protein uniprot:Q9BW83
IFT25 Protein uniprot:Q9Y547
TRAF3IP1 Protein uniprot:Q8TDR0
TOM1L2 Protein uniprot:Q6ZVM7
CLTC Protein uniprot:Q00610
CLTC Protein uniprot:Q00610
CLTA Protein uniprot:P09496 Clathrin a
CLTB Protein uniprot:P09497 Clathrin a
G6PC1 Protein uniprot:P35575
FOXA2 Protein uniprot:Q9Y261
HES6 Protein uniprot:Q96HZ4
FERD3L Protein uniprot:Q96RJ6
MKLN1 Protein uniprot:Q9UL63
ARMC8 Protein uniprot:Q8IUR7
WDR26 Protein uniprot:Q9H7D7
RMND5A Protein uniprot:Q9H871
RANBP9 Protein uniprot:Q96S59
GID4 Protein uniprot:Q8IVV7
HBP1 Protein uniprot:O60381
MIGA2 Protein uniprot:Q7L4E1
PRKAG2 Protein uniprot:Q9UGJ0
PRKAB1 Protein uniprot:Q9Y478
WWTR1 Protein uniprot:Q9GZV5
ETV5 Protein uniprot:P41161
PPP1R14A Protein uniprot:Q96A00
FNIP1 Protein uniprot:Q8TF40
RPTOR Protein uniprot:Q8N122
MTOR Protein uniprot:P42345
COPS7A Protein uniprot:Q9UBW8
COPS5 Protein uniprot:Q92905
COPS6 Protein uniprot:Q7L5N1
COPS8 Protein uniprot:Q99627
COPS3 Protein uniprot:Q9UNS2
COPS2 Protein uniprot:P61201
COPS4 Protein uniprot:Q9BT78
GPS1 Protein uniprot:Q13098
TP53 Protein uniprot:P04637
JUN Protein uniprot:P05412
ITPK1 Protein uniprot:Q13572
IRF8 Protein uniprot:Q02556
CREB Protein ensembl:ENSG00000118260

References

  1. Temporal relationship between melatonin and cortisol responses to nighttime physical stress in humans. Monteleone P, Fuschino A, Nolfe G, Maj M. Psychoneuroendocrinology. 1992;17(1):81–6. PubMed Europe PMC Scholia
  2. Cloning of human cDNAs encoding mitochondrial and cytosolic serine hydroxymethyltransferases and chromosomal localization. Garrow TA, Brenner AA, Whitehead VM, Chen XN, Duncan RG, Korenberg JR, et al. J Biol Chem. 1993 Jun 5;268(16):11910–6. PubMed Europe PMC Scholia
  3. A deoxyribonucleotidase in mitochondria: involvement in regulation of dNTP pools and possible link to genetic disease. Rampazzo C, Gallinaro L, Milanesi E, Frigimelica E, Reichard P, Bianchi V. Proc Natl Acad Sci U S A. 2000 Jul 18;97(15):8239–44. PubMed Europe PMC Scholia
  4. APRIL and TALL-I and receptors BCMA and TACI: system for regulating humoral immunity. Yu G, Boone T, Delaney J, Hawkins N, Kelley M, Ramakrishnan M, et al. Nat Immunol. 2000 Sep;1(3):252–6. PubMed Europe PMC Scholia
  5. Signaling pathways mediated by tumor necrosis factor alpha. Leong KG, Karsan A. Histol Histopathol. 2000 Oct;15(4):1303–25. PubMed Europe PMC Scholia
  6. COP9 signalosome-specific phosphorylation targets p53 to degradation by the ubiquitin system. Bech-Otschir D, Kraft R, Huang X, Henklein P, Kapelari B, Pollmann C, et al. EMBO J. 2001 Apr 2;20(7):1630–9. PubMed Europe PMC Scholia
  7. Identification of liver X receptor-retinoid X receptor as an activator of the sterol regulatory element-binding protein 1c gene promoter. Yoshikawa T, Shimano H, Amemiya-Kudo M, Yahagi N, Hasty AH, Matsuzaka T, et al. Mol Cell Biol. 2001 May;21(9):2991–3000. PubMed Europe PMC Scholia
  8. Induction of BIM, a proapoptotic BH3-only BCL-2 family member, is critical for neuronal apoptosis. Putcha GV, Moulder KL, Golden JP, Bouillet P, Adams JA, Strasser A, et al. Neuron. 2001 Mar;29(3):615–28. PubMed Europe PMC Scholia
  9. Promotion of NEDD-CUL1 conjugate cleavage by COP9 signalosome. Lyapina S, Cope G, Shevchenko A, Serino G, Tsuge T, Zhou C, et al. Science. 2001 May 18;292(5520):1382–5. PubMed Europe PMC Scholia
  10. Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria. Wang ZG, White PS, Ackerman SH. J Biol Chem. 2001 Aug 17;276(33):30773–8. PubMed Europe PMC Scholia
  11. Membrane topography of human phosphatidylethanolamine N-methyltransferase. Shields DJ, Lehner R, Agellon LB, Vance DE. J Biol Chem. 2003 Jan 31;278(5):2956–62. PubMed Europe PMC Scholia
  12. Identification of a functionally impaired positive regulatory domain I binding factor 1 transcription repressor in myeloma cell lines. Györy I, Fejér G, Ghosh N, Seto E, Wright KL. J Immunol. 2003 Mar 15;170(6):3125–33. PubMed Europe PMC Scholia
  13. Mammalian Lgl forms a protein complex with PAR-6 and aPKC independently of PAR-3 to regulate epithelial cell polarity. Yamanaka T, Horikoshi Y, Sugiyama Y, Ishiyama C, Suzuki A, Hirose T, et al. Curr Biol. 2003 Apr 29;13(9):734–43. PubMed Europe PMC Scholia
  14. p116Rip decreases myosin II phosphorylation by activating myosin light chain phosphatase and by inactivating RhoA. Koga Y, Ikebe M. J Biol Chem. 2005 Feb 11;280(6):4983–91. PubMed Europe PMC Scholia
  15. RING finger ubiquitin-protein isopeptide ligase Nrdp1/FLRF regulates parkin stability and activity. Zhong L, Tan Y, Zhou A, Yu Q, Zhou J. J Biol Chem. 2005 Mar 11;280(10):9425–30. PubMed Europe PMC Scholia
  16. Reduced expression of Hugl-1, the human homologue of Drosophila tumour suppressor gene lgl, contributes to progression of colorectal cancer. Schimanski CC, Schmitz G, Kashyap A, Bosserhoff AK, Bataille F, Schäfer SC, et al. Oncogene. 2005 Apr 28;24(19):3100–9. PubMed Europe PMC Scholia
  17. Localization-independent regulation of homocysteine secretion by phosphatidylethanolamine N-methyltransferase. Shields DJ, Lingrell S, Agellon LB, Brosnan JT, Vance DE. J Biol Chem. 2005 Jul 22;280(29):27339–44. PubMed Europe PMC Scholia
  18. Recruitment of clathrin onto endosomes by the Tom1-Tollip complex. Katoh Y, Imakagura H, Futatsumori M, Nakayama K. Biochem Biophys Res Commun. 2006 Mar 3;341(1):143–9. PubMed Europe PMC Scholia
  19. Flightless I homolog negatively modulates the TLR pathway. Wang T, Chuang TH, Ronni T, Gu S, Du YC, Cai H, et al. J Immunol. 2006 Feb 1;176(3):1355–62. PubMed Europe PMC Scholia
  20. The cellular functions of clathrin. Royle SJ. Cell Mol Life Sci. 2006 Aug;63(16):1823–32. PubMed Europe PMC Scholia
  21. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Baba M, Hong SB, Sharma N, Warren MB, Nickerson ML, Iwamatsu A, et al. Proc Natl Acad Sci U S A. 2006 Oct 17;103(42):15552–7. PubMed Europe PMC Scholia
  22. A common lipid links Mfn-mediated mitochondrial fusion and SNARE-regulated exocytosis. Choi SY, Huang P, Jenkins GM, Chan DC, Schiller J, Frohman MA. Nat Cell Biol. 2006 Nov;8(11):1255–62. PubMed Europe PMC Scholia
  23. Regulation and functions of Blimp-1 in T and B lymphocytes. Martins G, Calame K. Annu Rev Immunol. 2008;26:133–69. PubMed Europe PMC Scholia
  24. Parkin is ubiquitinated by Nrdp1 and abrogates Nrdp1-induced oxidative stress. Yu F, Zhou J. Neurosci Lett. 2008 Jul 25;440(1):4–8. PubMed Europe PMC Scholia
  25. Dexras1 interacts with FE65 to regulate FE65-amyloid precursor protein-dependent transcription. Lau KF, Chan WM, Perkinton MS, Tudor EL, Chang RCC, Chan HYE, et al. J Biol Chem. 2008 Dec 12;283(50):34728–37. PubMed Europe PMC Scholia
  26. The BLyS family: toward a molecular understanding of B cell homeostasis. Treml JF, Hao Y, Stadanlick JE, Cancro MP. Cell Biochem Biophys. 2009;53(1):1–16. PubMed Europe PMC Scholia
  27. Saccharomyces cerevisiae Med9 comprises two functionally distinct domains that play different roles in transcriptional regulation. Takahashi H, Kasahara K, Kokubo T. Genes Cells. 2009 Jan;14(1):53–67. PubMed Europe PMC Scholia
  28. Role of interleukin-1beta during pain and inflammation. Ren K, Torres R. Brain Res Rev. 2009 Apr;60(1):57–64. PubMed Europe PMC Scholia
  29. Ragulator-Rag complex targets mTORC1 to the lysosomal surface and is necessary for its activation by amino acids. Sancak Y, Bar-Peled L, Zoncu R, Markhard AL, Nada S, Sabatini DM. Cell. 2010 Apr 16;141(2):290–303. PubMed Europe PMC Scholia
  30. Network organization of the human autophagy system. Behrends C, Sowa ME, Gygi SP, Harper JW. Nature. 2010 Jul 1;466(7302):68–76. PubMed Europe PMC Scholia
  31. MITOPLD is a mitochondrial protein essential for nuage formation and piRNA biogenesis in the mouse germline. Watanabe T, Chuma S, Yamamoto Y, Kuramochi-Miyagawa S, Totoki Y, Toyoda A, et al. Dev Cell. 2011 Mar 15;20(3):364–75. PubMed Europe PMC Scholia
  32. piRNA-associated germline nuage formation and spermatogenesis require MitoPLD profusogenic mitochondrial-surface lipid signaling. Huang H, Gao Q, Peng X, Choi SY, Sarma K, Ren H, et al. Dev Cell. 2011 Mar 15;20(3):376–87. PubMed Europe PMC Scholia
  33. TFEB links autophagy to lysosomal biogenesis. Settembre C, Di Malta C, Polito VA, Garcia Arencibia M, Vetrini F, Erdin S, et al. Science. 2011 Jun 17;332(6036):1429–33. PubMed Europe PMC Scholia
  34. Lgl1 activation of rab10 promotes axonal membrane trafficking underlying neuronal polarization. Wang T, Liu Y, Xu XH, Deng CY, Wu KY, Zhu J, et al. Dev Cell. 2011 Sep 13;21(3):431–44. PubMed Europe PMC Scholia
  35. Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. Williams SR, Zies D, Mullegama SV, Grotewiel MS, Elsea SH. Am J Hum Genet. 2012 Jun 8;90(6):941–9. PubMed Europe PMC Scholia
  36. ALKBH5 is a mammalian RNA demethylase that impacts RNA metabolism and mouse fertility. Zheng G, Dahl JA, Niu Y, Fedorcsak P, Huang CM, Li CJ, et al. Mol Cell. 2013 Jan 10;49(1):18–29. PubMed Europe PMC Scholia
  37. Targeting the BLyS-APRIL signaling pathway in SLE. La Cava A. Clin Immunol. 2013 Sep;148(3):322–7. PubMed Europe PMC Scholia
  38. The BLM dissolvasome in DNA replication and repair. Manthei KA, Keck JL. Cell Mol Life Sci. 2013 Nov;70(21):4067–84. PubMed Europe PMC Scholia
  39. Myosin VI and its cargo adaptors - linking endocytosis and autophagy. Tumbarello DA, Kendrick-Jones J, Buss F. J Cell Sci. 2013 Jun 15;126(Pt 12):2561–70. PubMed Europe PMC Scholia
  40. Adaptor proteins MiD49 and MiD51 can act independently of Mff and Fis1 in Drp1 recruitment and are specific for mitochondrial fission. Palmer CS, Elgass KD, Parton RG, Osellame LD, Stojanovski D, Ryan MT. J Biol Chem. 2013 Sep 20;288(38):27584–93. PubMed Europe PMC Scholia
  41. Recruitment of folliculin to lysosomes supports the amino acid-dependent activation of Rag GTPases. Petit CS, Roczniak-Ferguson A, Ferguson SM. J Cell Biol. 2013 Sep 30;202(7):1107–22. PubMed Europe PMC Scholia
  42. Structure of human RNA N⁶-methyladenine demethylase ALKBH5 provides insights into its mechanisms of nucleic acid recognition and demethylation. Aik W, Scotti JS, Choi H, Gong L, Demetriades M, Schofield CJ, et al. Nucleic Acids Res. 2014 Apr;42(7):4741–54. PubMed Europe PMC Scholia
  43. Phosphatidic acid (PA)-preferring phospholipase A1 regulates mitochondrial dynamics. Baba T, Kashiwagi Y, Arimitsu N, Kogure T, Edo A, Maruyama T, et al. J Biol Chem. 2014 Apr 18;289(16):11497–511. PubMed Europe PMC Scholia
  44. Crystal structures of the human RNA demethylase Alkbh5 reveal basis for substrate recognition. Feng C, Liu Y, Wang G, Deng Z, Zhang Q, Wu W, et al. J Biol Chem. 2014 Apr 25;289(17):11571–83. PubMed Europe PMC Scholia
  45. Distinct biochemical properties of human serine hydroxymethyltransferase compared with the Plasmodium enzyme: implications for selective inhibition. Pinthong C, Maenpuen S, Amornwatcharapong W, Yuthavong Y, Leartsakulpanich U, Chaiyen P. FEBS J. 2014 Jun;281(11):2570–83. PubMed Europe PMC Scholia
  46. Structures of human ALKBH5 demethylase reveal a unique binding mode for specific single-stranded N6-methyladenosine RNA demethylation. Xu C, Liu K, Tempel W, Demetriades M, Aik W, Schofield CJ, et al. J Biol Chem. 2014 Jun 20;289(25):17299–311. PubMed Europe PMC Scholia
  47. The diabetes susceptibility gene Clec16a regulates mitophagy. Soleimanpour SA, Gupta A, Bakay M, Ferrari AM, Groff DN, Fadista J, et al. Cell. 2014 Jun 19;157(7):1577–90. PubMed Europe PMC Scholia
  48. Amyloid precursor protein dimerization and synaptogenic function depend on copper binding to the growth factor-like domain. Baumkötter F, Schmidt N, Vargas C, Schilling S, Weber R, Wagner K, et al. J Neurosci. 2014 Aug 13;34(33):11159–72. PubMed Europe PMC Scholia
  49. FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation. Dunlop EA, Seifan S, Claessens T, Behrends C, Kamps MA, Rozycka E, et al. Autophagy. 2014 Oct 1;10(10):1749–60. PubMed Europe PMC Scholia
  50. The mammalian circadian clock protein period counteracts cryptochrome in phosphorylation dynamics of circadian locomotor output cycles kaput (CLOCK). Matsumura R, Tsuchiya Y, Tokuda I, Matsuo T, Sato M, Node K, et al. J Biol Chem. 2014 Nov 14;289(46):32064–72. PubMed Europe PMC Scholia
  51. Detailed structural and biochemical characterization of the nexin-dynein regulatory complex. Oda T, Yanagisawa H, Kikkawa M. Mol Biol Cell. 2015 Jan 15;26(2):294–304. PubMed Europe PMC Scholia
  52. Folliculin-interacting proteins Fnip1 and Fnip2 play critical roles in kidney tumor suppression in cooperation with Flcn. Hasumi H, Baba M, Hasumi Y, Lang M, Huang Y, Oh HF, et al. Proc Natl Acad Sci U S A. 2015 Mar 31;112(13):E1624-31. PubMed Europe PMC Scholia
  53. Effect of TACI signaling on humoral immunity and autoimmune diseases. Zhang Y, Li J, Zhang YM, Zhang XM, Tao J. J Immunol Res. 2015;2015:247426. PubMed Europe PMC Scholia
  54. Functional roles of non-coding Y RNAs. Kowalski MP, Krude T. Int J Biochem Cell Biol. 2015 Sep;66:20–9. PubMed Europe PMC Scholia
  55. The Function of Rho-Associated Kinases ROCK1 and ROCK2 in the Pathogenesis of Cardiovascular Disease. Hartmann S, Ridley AJ, Lutz S. Front Pharmacol. 2015 Nov 20;6:276. PubMed Europe PMC Scholia
  56. A MYC-Driven Change in Mitochondrial Dynamics Limits YAP/TAZ Function in Mammary Epithelial Cells and Breast Cancer. von Eyss B, Jaenicke LA, Kortlever RM, Royla N, Wiese KE, Letschert S, et al. Cancer Cell. 2015 Dec 14;28(6):743–57. PubMed Europe PMC Scholia
  57. Mitoguardin Regulates Mitochondrial Fusion through MitoPLD and Is Required for Neuronal Homeostasis. Zhang Y, Liu X, Bai J, Tian X, Zhao X, Liu W, et al. Mol Cell. 2016 Jan 7;61(1):111–24. PubMed Europe PMC Scholia
  58. Rasd1, a small G protein with a big role in the hypothalamic response to neuronal activation. Greenwood MP, Greenwood M, Mecawi AS, Antunes-Rodrigues J, Paton JFR, Murphy D. Mol Brain. 2016 Jan 7;9:1. PubMed Europe PMC Scholia
  59. Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death. Sellier C, Campanari ML, Julie Corbier C, Gaucherot A, Kolb-Cheynel I, Oulad-Abdelghani M, et al. EMBO J. 2016 Jun 15;35(12):1276–97. PubMed Europe PMC Scholia
  60. The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway. Sullivan PM, Zhou X, Robins AM, Paushter DH, Kim D, Smolka MB, et al. Acta Neuropathol Commun. 2016 May 18;4(1):51. PubMed Europe PMC Scholia
  61. Melatonin Signal Transduction Pathways Require E-Box-Mediated Transcription of Per1 and Per2 to Reset the SCN Clock at Dusk. Kandalepas PC, Mitchell JW, Gillette MU. PLoS One. 2016 Jun 30;11(6):e0157824. PubMed Europe PMC Scholia
  62. CREB-mediated synaptogenesis and neurogenesis is crucial for the role of 5-HT1a receptors in modulating anxiety behaviors. Zhang J, Cai CY, Wu HY, Zhu LJ, Luo CX, Zhu DY. Sci Rep. 2016 Jul 12;6:29551. PubMed Europe PMC Scholia
  63. PRDM1 overexpression induce G0/G1 arrest in DF-1 cell line. Wan Z, Lu Y, Rui L, Yu X, Li Z. Gene. 2016 Oct 30;592(1):119–27. PubMed Europe PMC Scholia
  64. MYO6 Regulates Spatial Organization of Signaling Endosomes Driving AKT Activation and Actin Dynamics. Masters TA, Tumbarello DA, Chibalina MV, Buss F. Cell Rep. 2017 Jun 6;19(10):2088–101. PubMed Europe PMC Scholia
  65. Exophagy of annexin A2 via RAB11, RAB8A and RAB27A in IFN-γ-stimulated lung epithelial cells. Chen YD, Fang YT, Cheng YL, Lin CF, Hsu LJ, Wang SY, et al. Sci Rep. 2017 Jul 18;7(1):5676. PubMed Europe PMC Scholia
  66. Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. Nicholls TJ, Nadalutti CA, Motori E, Sommerville EW, Gorman GS, Basu S, et al. Mol Cell. 2018 Jan 4;69(1):9-23.e6. PubMed Europe PMC Scholia
  67. Amino acid and small GTPase regulation of mTORC1. Nguyen TP, Frank AR, Jewell JL. Cell Logist. 2017 Sep 29;7(4):e1378794. PubMed Europe PMC Scholia
  68. Serine Catabolism by SHMT2 Is Required for Proper Mitochondrial Translation Initiation and Maintenance of Formylmethionyl-tRNAs. Minton DR, Nam M, McLaughlin DJ, Shin J, Bayraktar EC, Alvarez SW, et al. Mol Cell. 2018 Feb 15;69(4):610-621.e5. PubMed Europe PMC Scholia
  69. The multi-subunit GID/CTLH E3 ubiquitin ligase promotes cell proliferation and targets the transcription factor Hbp1 for degradation. Lampert F, Stafa D, Goga A, Soste MV, Gilberto S, Olieric N, et al. Elife. 2018 Jun 18;7:e35528. PubMed Europe PMC Scholia
  70. Role of TLR4/MyD88/NF-κB signaling pathway in coronary microembolization-induced myocardial injury prevented and treated with nicorandil. Su Q, Lv X, Sun Y, Ye Z, Kong B, Qin Z. Biomed Pharmacother. 2018 Oct;106:776–84. PubMed Europe PMC Scholia
  71. MiD49 and MiD51: New mediators of mitochondrial fission and novel targets for cardioprotection. Samangouei P, Crespo-Avilan GE, Cabrera-Fuentes H, Hernández-Reséndiz S, Ismail NI, Katwadi KB, et al. Cond Med. 2018 Aug;1(5):239–46. PubMed Europe PMC Scholia
  72. The positive circadian regulators CLOCK and BMAL1 control G2/M cell cycle transition through Cyclin B1. Farshadi E, Yan J, Leclere P, Goldbeter A, Chaves I, van der Horst GTJ. Cell Cycle. 2019 Jan;18(1):16–33. PubMed Europe PMC Scholia
  73. SMCR8 negatively regulates AKT and MTORC1 signaling to modulate lysosome biogenesis and tissue homeostasis. Lan Y, Sullivan PM, Hu F. Autophagy. 2019 May;15(5):871–85. PubMed Europe PMC Scholia
  74. The mammalian CTLH complex is an E3 ubiquitin ligase that targets its subunit muskelin for degradation. Maitland MER, Onea G, Chiasson CA, Wang X, Ma J, Moor SE, et al. Sci Rep. 2019 Jul 8;9(1):9864. PubMed Europe PMC Scholia
  75. The Emerging Roles of mTORC1 in Macromanaging Autophagy. Dossou AS, Basu A. Cancers (Basel). 2019 Sep 24;11(10):1422. PubMed Europe PMC Scholia
  76. RhoA/ROCK pathway: implication in osteoarthritis and therapeutic targets. Deng Z, Jia Y, Liu H, He M, Yang Y, Xiao W, et al. Am J Transl Res. 2019 Sep 15;11(9):5324–31. PubMed Europe PMC Scholia
  77. Structural mechanism of a Rag GTPase activation checkpoint by the lysosomal folliculin complex. Lawrence RE, Fromm SA, Fu Y, Yokom AL, Kim DJ, Thelen AM, et al. Science. 2019 Nov 22;366(6468):971–7. PubMed Europe PMC Scholia
  78. C9orf72 and smcr8 mutant mice reveal MTORC1 activation due to impaired lysosomal degradation and exocytosis. Shao Q, Yang M, Liang C, Ma L, Zhang W, Jiang Z, et al. Autophagy. 2020 Sep;16(9):1635–50. PubMed Europe PMC Scholia
  79. Y RNAs: Biogenesis, Function and Implications for the Cardiovascular System. Valkov N, Das S. Adv Exp Med Biol. 2020;1229:327–42. PubMed Europe PMC Scholia
  80. Drp1 regulates mitochondrial dysfunction and dysregulated metabolism in ischemic injury via Clec16a-, BAX-, and GSH- pathways. Duan C, Kuang L, Xiang X, Zhang J, Zhu Y, Wu Y, et al. Cell Death Dis. 2020 Apr 20;11(4):251. PubMed Europe PMC Scholia
  81. Srebf1 Controls Midbrain Dopaminergic Neurogenesis. Toledo EM, Yang S, Gyllborg D, van Wijk KE, Sinha I, Varas-Godoy M, et al. Cell Rep. 2020 May 5;31(5):107601. PubMed Europe PMC Scholia
  82. RAB39B’s role in membrane traffic, autophagy, and associated neuropathology. Tang BL. J Cell Physiol. 2021 Mar;236(3):1579–92. PubMed Europe PMC Scholia
  83. The ATPase mechanism of myosin 15, the molecular motor mutated in DFNB3 human deafness. Jiang F, Takagi Y, Shams A, Heissler SM, Friedman TB, Sellers JR, et al. J Biol Chem. 2021;296:100243. PubMed Europe PMC Scholia
  84. MicroRNA-mediated regulation of glucose and lipid metabolism. Agbu P, Carthew RW. Nat Rev Mol Cell Biol. 2021 Jun;22(6):425–38. PubMed Europe PMC Scholia
  85. Structure of the human Mediator-RNA polymerase II pre-initiation complex. Rengachari S, Schilbach S, Aibara S, Dienemann C, Cramer P. Nature. 2021 Jun;594(7861):129–33. PubMed Europe PMC Scholia
  86. The tumor suppressor folliculin inhibits lactate dehydrogenase A and regulates the Warburg effect. Woodford MR, Baker-Williams AJ, Sager RA, Backe SJ, Blanden AR, Hashmi F, et al. Nat Struct Mol Biol. 2021 Aug;28(8):662–70. PubMed Europe PMC Scholia
  87. Metformin Is a Pyridoxal-5’-phosphate (PLP)-Competitive Inhibitor of SHMT2. Tramonti A, Cuyàs E, Encinar JA, Pietzke M, Paone A, Verdura S, et al. Cancers (Basel). 2021 Aug 9;13(16):4009. PubMed Europe PMC Scholia
  88. YAP and TAZ are transcriptional co-activators of AP-1 proteins and STAT3 during breast cellular transformation. He L, Pratt H, Gao M, Wei F, Weng Z, Struhl K. Elife. 2021 Aug 31;10:e67312. PubMed Europe PMC Scholia
  89. DRP1 interacts directly with BAX to induce its activation and apoptosis. Jenner A, Peña-Blanco A, Salvador-Gallego R, Ugarte-Uribe B, Zollo C, Ganief T, et al. EMBO J. 2022 Apr 19;41(8):e108587. PubMed Europe PMC Scholia
  90. DRG2 Depletion Promotes Endothelial Cell Senescence and Vascular Endothelial Dysfunction. Le AN, Park SS, Le MX, Lee UH, Ko BK, Lim HR, et al. Int J Mol Sci. 2022 Mar 6;23(5):2877. PubMed Europe PMC Scholia
  91. DRC3 is an assembly adapter of the nexin-dynein regulatory complex functional components during spermatogenesis in humans and mice. Zhou S, Yuan S, Zhang J, Meng L, Zhang X, Liu S, et al. Signal Transduct Target Ther. 2023 Jan 10;8(1):26. PubMed Europe PMC Scholia
  92. The Circadian Clock, Nutritional Signals and Reproduction: A Close Relationship. Ono M, Ando H, Daikoku T, Fujiwara T, Mieda M, Mizumoto Y, et al. Int J Mol Sci. 2023 Jan 12;24(2):1545. PubMed Europe PMC Scholia
  93. CLEC16A-An Emerging Master Regulator of Autoimmunity and Neurodegeneration. Pandey R, Bakay M, Hakonarson H. Int J Mol Sci. 2023 May 4;24(9):8224. PubMed Europe PMC Scholia
  94. COPS3 inhibition promotes cell proliferation blockage and anoikis via regulating PFKFB3 in osteosarcoma cancer cells. Zhang F, Li Q, Zhang Y, Li N, Rao M, Li S, et al. Eur J Pharmacol. 2023 Jul 15;951:175799. PubMed Europe PMC Scholia