A citation-based method for searching scientific literature

Daan M Panneman, Saskia B Wortmann, Charlotte A Haaxma, Peter M van Hasselt, Nicole I Wolf, Yvonne Hendriks, Benno Küsters, Sjenet van Emst-de Vries, Els van de Westerlo, Werner J H Koopman, Liesbeth Wintjes, Frans van den Brandt, Maaike de Vries, Dirk J Lefeber, Jan A M Smeitink, Richard J Rodenburg. Clin Genet 2020
Times Cited: 11







List of co-cited articles
74 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
127
81

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
72

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
72
72


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
80
63

N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1.
Kun Yang, Ryan Huang, Haruhiko Fujihira, Tadashi Suzuki, Nan Yan. J Exp Med 2018
55
63

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
29
63


Clinical application of exome sequencing in undiagnosed genetic conditions.
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
287
54

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
10
60

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
45

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
45


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
67
45

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
45

Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.
Izabel Maryalexandra Rios-Flores, Miguel Ángel Bonal-Pérez, Abril Castellanos-González, Ezequiel Velez-Gómez, Aida M Bertoli-Avella, Lucina Bobadilla-Morales, Christian Peña-Padilla, Valentina Appendini-Andrade, Alfredo Corona-Rivera, Ivón Romero-Valenzuela,[...]. Eur J Med Genet 2020
7
71

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
36

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
25
36

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


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
14
36

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
23
36


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
43
36

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
50

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
13
36

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
27

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
27

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
27


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
34
27


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
323
27

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
11
27

JF1/B6F1 Ngly1-/- mouse as an isogenic animal model of NGLY1 deficiency.
Makoto Asahina, Reiko Fujinawa, Haruhiko Fujihira, Yuki Masahara-Negishi, Tomohiro Andou, Ryuichi Tozawa, Tadashi Suzuki. Proc Jpn Acad Ser B Phys Biol Sci 2021
8
37

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
16
27

NGLY1 deficiency: Novel variants and literature review.
Ariana Kariminejad, Marjan Shakiba, Mehrvash Shams, Parva Namiranian, Maryam Eghbali, Said Talebi, Mina Makvand, Jaak Jaeken, Hossein Najmabadi, Raoul C Hennekam. Eur J Med Genet 2021
7
42

NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
Ivana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, Kimiyo Raymond, Franklin Ducatez, Anne-Marie Guerrot, Sarah Snanoudj, Sophie Coutant, Pascale Saugier-Veber, Stéphane Marret,[...]. Life (Basel) 2021
4
75

Biochemical diagnosis of mitochondrial disorders.
Richard J T Rodenburg. J Inherit Metab Dis 2011
131
18

A role for N-glycanase in the cytosolic turnover of glycoproteins.
Christian Hirsch, Daniël Blom, Hidde L Ploegh. EMBO J 2003
161
18

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
18

Mammalian AMP-activated protein kinase subfamily.
D Stapleton, K I Mitchelhill, G Gao, J Widmer, B J Michell, T Teh, C M House, C S Fernandez, T Cox, L A Witters,[...]. J Biol Chem 1996
523
18

The genetics and pathology of mitochondrial disease.
Charlotte L Alston, Mariana C Rocha, Nichola Z Lax, Doug M Turnbull, Robert W Taylor. J Pathol 2017
194
18

Small molecule antagonizes autoinhibition and activates AMP-activated protein kinase in cells.
Tao Pang, Zhen-Shan Zhang, Min Gu, Bei-Ying Qiu, Li-Fang Yu, Peng-Rong Cao, Wei Shao, Ming-Bo Su, Jing-Ya Li, Fa-Jun Nan,[...]. J Biol Chem 2008
125
18

AMPK: guardian of metabolism and mitochondrial homeostasis.
Sébastien Herzig, Reuben J Shaw. Nat Rev Mol Cell Biol 2018
18

AMPK supports growth in Drosophila by regulating muscle activity and nutrient uptake in the gut.
Michelle L Bland, Robert J Lee, Julie M Magallanes, J Kevin Foskett, Morris J Birnbaum. Dev Biol 2010
34
18

Structural and mutational studies on the importance of oligosaccharide binding for the activity of yeast PNGase.
Gang Zhao, Guangtao Li, Xiaoke Zhou, Ichiro Matsuo, Yukishige Ito, Tadashi Suzuki, William J Lennarz, Hermann Schindelin. Glycobiology 2009
19
18

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
165
18



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.