A citation-based method for searching scientific literature

Anna C Need, Vandana Shashi, Yuki Hitomi, Kelly Schoch, Kevin V Shianna, Marie T McDonald, Miriam H Meisler, David B Goldstein. J Med Genet 2012
Times Cited: 288







List of co-cited articles
476 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Gregory M Enns, Vandana Shashi, Matthew Bainbridge, Michael J Gambello, Farah R Zahir, Thomas Bast, Rebecca Crimian, Kelly Schoch, Julia Platt, Rachel Cox,[...]. Genet Med 2014
128
44

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Christina Lam, Carlos Ferreira, Donna Krasnewich, Camilo Toro, Lea Latham, Wadih M Zein, Tanya Lehky, Carmen Brewer, Eva H Baker, Audrey Thurm,[...]. Genet Med 2017
73
52

Endo-β-N-acetylglucosaminidase forms N-GlcNAc protein aggregates during ER-associated degradation in Ngly1-defective cells.
Chengcheng Huang, Yoichiro Harada, Akira Hosomi, Yuki Masahara-Negishi, Junichi Seino, Haruhiko Fujihira, Yoko Funakoshi, Takehiro Suzuki, Naoshi Dohmae, Tadashi Suzuki. Proc Natl Acad Sci U S A 2015
68
39

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
Ahmet Okay Caglayan, Sinan Comu, Jacob F Baranoski, Yesim Parman, Hande Kaymakçalan, Gozde Tugce Akgumus, Caner Caglar, Duygu Dolen, Emine Zeynep Erson-Omay, Akdes Serin Harmanci,[...]. Eur J Med Genet 2015
53
50

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
26

Lethality of mice bearing a knockout of the Ngly1-gene is partially rescued by the additional deletion of the Engase gene.
Haruhiko Fujihira, Yuki Masahara-Negishi, Masaru Tamura, Chengcheng Huang, Yoichiro Harada, Shigeharu Wakana, Daisuke Takakura, Nana Kawasaki, Naoyuki Taniguchi, Gen Kondoh,[...]. PLoS Genet 2017
44
54

Inhibition of NGLY1 Inactivates the Transcription Factor Nrf1 and Potentiates Proteasome Inhibitor Cytotoxicity.
Frederick M Tomlin, Ulla I M Gerling-Driessen, Yi-Chang Liu, Ryan A Flynn, Janakiram R Vangala, Christian S Lentz, Sandra Clauder-Muenster, Petra Jakob, William F Mueller, Diana Ordoñez-Rueda,[...]. ACS Cent Sci 2017
82
29


The cytoplasmic peptide:N-glycanase (NGLY1) - Structure, expression and cellular functions.
Tadashi Suzuki, Chengcheng Huang, Haruhiko Fujihira. Gene 2016
60
36


N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1.
Kun Yang, Ryan Huang, Haruhiko Fujihira, Tadashi Suzuki, Nan Yan. J Exp Med 2018
58
36

Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Hane Lee, Joshua L Deignan, Naghmeh Dorrani, Samuel P Strom, Sibel Kantarci, Fabiola Quintero-Rivera, Kingshuk Das, Traci Toy, Bret Harry, Michael Yourshaw,[...]. JAMA 2014
592
19


Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
17

Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.
Katie G Owings, Joshua B Lowry, Yiling Bi, Matthew Might, Clement Y Chow. Hum Mol Genet 2018
35
48

Mitochondrial function requires NGLY1.
Jianping Kong, Min Peng, Julian Ostrovsky, Young Joon Kwon, Olga Oretsky, Elizabeth M McCormick, Miao He, Yair Argon, Marni J Falk. Mitochondrion 2018
30
53

Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
852
15

Tissue-specific regulation of BMP signaling by Drosophila N-glycanase 1.
Antonio Galeone, Seung Yeop Han, Chengcheng Huang, Akira Hosomi, Tadashi Suzuki, Hamed Jafar-Nejad. Elife 2017
24
62

A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.
Ping He, Jeff E Grotzke, Bobby G Ng, Murat Gunel, Hamed Jafar-Nejad, Peter Cresswell, Gregory M Enns, Hudson H Freeze. Glycobiology 2015
26
50

Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency.
Britt J van Keulen, Joost Rotteveel, Martijn J J Finken. Physiol Rep 2019
16
75


Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.
Makoto Asahina, Reiko Fujinawa, Sayuri Nakamura, Kotaro Yokoyama, Ryuichi Tozawa, Tadashi Suzuki. Hum Mol Genet 2020
17
70

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
11

PNG1, a yeast gene encoding a highly conserved peptide:N-glycanase.
T Suzuki, H Park, N M Hollingsworth, R Sternglanz, W J Lennarz. J Cell Biol 2000
167
11


Evidence for an essential deglycosylation-independent activity of PNGase in Drosophila melanogaster.
Yoko Funakoshi, Yuki Negishi, J Peter Gergen, Junichi Seino, Kumiko Ishii, William J Lennarz, Ichiro Matsuo, Yukishige Ito, Naoyuki Taniguchi, Tadashi Suzuki. PLoS One 2010
30
33

Transcription factor Nrf1 mediates the proteasome recovery pathway after proteasome inhibition in mammalian cells.
Senthil K Radhakrishnan, Candy S Lee, Patrick Young, Anne Beskow, Jefferson Y Chan, Raymond J Deshaies. Mol Cell 2010
325
10

Novel genetic causes for cerebral visual impairment.
Daniëlle G M Bosch, F Nienke Boonstra, Nicole de Leeuw, Rolph Pfundt, Willy M Nillesen, Joep de Ligt, Christian Gilissen, Shalini Jhangiani, James R Lupski, Frans P M Cremers,[...]. Eur J Hum Genet 2016
87
11

A role for N-glycanase in the cytosolic turnover of glycoproteins.
Christian Hirsch, Daniël Blom, Hidde L Ploegh. EMBO J 2003
161
9

Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a Drosophila Model of NGLY1 Deficiency.
Tamy Portillo Rodriguez, Joshua D Mast, Tom Hartl, Tom Lee, Peter Sand, Ethan O Perlstein. G3 (Bethesda) 2018
16
56

Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress.
Haruhiko Fujihira, Yuki Masahara-Negishi, Yoshihiro Akimoto, Hiroto Hirayama, Hyeon-Cheol Lee, Benjamin A Story, William F Mueller, Petra Jakob, Sandra Clauder-Münster, Lars M Steinmetz,[...]. Biochim Biophys Acta Mol Basis Dis 2020
11
81


Regulation of BMP4/Dpp retrotranslocation and signaling by deglycosylation.
Antonio Galeone, Joshua M Adams, Shinya Matsuda, Maximiliano F Presa, Ashutosh Pandey, Seung Yeop Han, Yuriko Tachida, Hiroto Hirayama, Thomas Vaccari, Tadashi Suzuki,[...]. Elife 2020
15
60



The N-glycanase png-1 acts to limit axon branching during organ formation in Caenorhabditis elegans.
Nasrin Habibi-Babadi, Anna Su, Carlos E de Carvalho, Antonio Colavita. J Neurosci 2010
27
29

Using a small molecule inhibitor of peptide: N-glycanase to probe its role in glycoprotein turnover.
Shahram Misaghi, Michael E Pacold, Daniël Blom, Hidde L Ploegh, Gregory Alan Korbel. Chem Biol 2004
95
8

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
Patricia L Hall, Christina Lam, John J Alexander, Ghazia Asif, Gerard T Berry, Carlos Ferreira, Hudson H Freeze, William A Gahl, Kim K Nickander, Jon D Sharer,[...]. Mol Genet Metab 2018
16
50


NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
Patryk Lipiński, Anna Bogdańska, Agnieszka Różdżyńska-Świątkowska, Aldona Wierzbicka-Rucińska, Anna Tylki-Szymańska. JIMD Rep 2020
11
72

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Hanneke A Haijes, Monique G M de Sain-van der Velden, Hubertus C M T Prinsen, Anke P Willems, Maria van der Ham, Johan Gerrits, Madeline H Couse, Jan M Friedman, Clara D M van Karnebeek, Kathryn A Selby,[...]. Mol Genet Metab 2019
14
57


NGLY1 deficiency-A rare congenital disorder of deglycosylation.
Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar. JIMD Rep 2020
11
72

Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation.
Haixia Ge, Qingbin Wu, Huigang Lu, Yong Huang, Tingting Zhou, Danlin Tan, ZhongqinJin. BMC Med Genet 2020
8
100

A conserved role for AMP-activated protein kinase in NGLY1 deficiency.
Seung Yeop Han, Ashutosh Pandey, Tereza Moore, Antonio Galeone, Lita Duraine, Tina M Cowan, Hamed Jafar-Nejad. PLoS Genet 2020
12
66

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.
Aaron M Wenger, Harendra Guturu, Jonathan A Bernstein, Gill Bejerano. Genet Med 2017
153
7


Endo-beta-N-acetylglucosaminidase, an enzyme involved in processing of free oligosaccharides in the cytosol.
Tadashi Suzuki, Keiichi Yano, Seiji Sugimoto, Ken Kitajima, William J Lennarz, Sadako Inoue, Yasuo Inoue, Yasufumi Emori. Proc Natl Acad Sci U S A 2002
97
7

The aspartyl protease DDI2 activates Nrf1 to compensate for proteasome dysfunction.
Shun Koizumi, Taro Irie, Shoshiro Hirayama, Yasuyuki Sakurai, Hideki Yashiroda, Isao Naguro, Hidenori Ichijo, Jun Hamazaki, Shigeo Murata. Elife 2016
94
7

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K Ruzzo, Yi-Fan Lu, K Melodi McSweeney, Bruria Ben-Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi,[...]. Genet Med 2015
206
7


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.