Kuerbanjiang Abuduxikuer, Lin Zou, Lei Wang, Li Chen, Jian-She Wang. J Hum Genet 2020
Times Cited: 9
Times Cited: 9
Times Cited
Times Co-cited
Similarity
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
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
100
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
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
100
Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry.
Eli M Cahan, Steven L Frick. Orphanet J Rare Dis 2019
Eli M Cahan, Steven L Frick. Orphanet J Rare Dis 2019
88
Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations.
Jennifer Heeley, Marwan Shinawi. Am J Med Genet A 2015
Jennifer Heeley, Marwan Shinawi. Am J Med Genet A 2015
88
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
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
77
N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1.
Kun Yang, Ryan Huang, Haruhiko Fujihira, Tadashi Suzuki, Nan Yan. J Exp Med 2018
Kun Yang, Ryan Huang, Haruhiko Fujihira, Tadashi Suzuki, Nan Yan. J Exp Med 2018
77
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
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
77
Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
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,[...]. Clin Genet 2020
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,[...]. Clin Genet 2020
66
The cytoplasmic peptide:N-glycanase (NGLY1) - Structure, expression and cellular functions.
Tadashi Suzuki, Chengcheng Huang, Haruhiko Fujihira. Gene 2016
Tadashi Suzuki, Chengcheng Huang, Haruhiko Fujihira. Gene 2016
66
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
Patryk Lipiński, Anna Bogdańska, Agnieszka Różdżyńska-Świątkowska, Aldona Wierzbicka-Rucińska, Anna Tylki-Szymańska. JIMD Rep 2020
55
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
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
55
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
Jianping Kong, Min Peng, Julian Ostrovsky, Young Joon Kwon, Olga Oretsky, Elizabeth M McCormick, Miao He, Yair Argon, Marni J Falk. Mitochondrion 2018
55
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
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
55
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
Tamy Portillo Rodriguez, Joshua D Mast, Tom Hartl, Tom Lee, Peter Sand, Ethan O Perlstein. G3 (Bethesda) 2018
55
Proteasome dysfunction triggers activation of SKN-1A/Nrf1 by the aspartic protease DDI-1.
Nicolas J Lehrbach, Gary Ruvkun. Elife 2016
Nicolas J Lehrbach, Gary Ruvkun. Elife 2016
55
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
Antonio Galeone, Seung Yeop Han, Chengcheng Huang, Akira Hosomi, Tadashi Suzuki, Hamed Jafar-Nejad. Elife 2017
55
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
Katie G Owings, Joshua B Lowry, Yiling Bi, Matthew Might, Clement Y Chow. Hum Mol Genet 2018
55
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
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
55
Protein Sequence Editing of SKN-1A/Nrf1 by Peptide:N-Glycanase Controls Proteasome Gene Expression.
Nicolas J Lehrbach, Peter C Breen, Gary Ruvkun. Cell 2019
Nicolas J Lehrbach, Peter C Breen, Gary Ruvkun. Cell 2019
55
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
Haruhiko Fujihira, Yuki Masahara-Negishi, Masaru Tamura, Chengcheng Huang, Yoichiro Harada, Shigeharu Wakana, Daisuke Takakura, Nana Kawasaki, Naoyuki Taniguchi, Gen Kondoh,[...]. PLoS Genet 2017
55
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
Haixia Ge, Qingbin Wu, Huigang Lu, Yong Huang, Tingting Zhou, Danlin Tan, ZhongqinJin. BMC Med Genet 2020
62
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
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
55
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
Ping He, Jeff E Grotzke, Bobby G Ng, Murat Gunel, Hamed Jafar-Nejad, Peter Cresswell, Gregory M Enns, Hudson H Freeze. Glycobiology 2015
44
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
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
44
Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation.
Caitlin A Chang, Xing-Chang Wei, Steven R Martin, David S Sinasac, Walla Al-Hertani. JIMD Rep 2019
Caitlin A Chang, Xing-Chang Wei, Steven R Martin, David S Sinasac, Walla Al-Hertani. JIMD Rep 2019
44
N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.
Mitali A Tambe, Bobby G Ng, Hudson H Freeze. Cell Rep 2019
Mitali A Tambe, Bobby G Ng, Hudson H Freeze. Cell Rep 2019
44
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
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
44
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
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
44
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
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
57
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
T Suzuki, H Park, N M Hollingsworth, R Sternglanz, W J Lennarz. J Cell Biol 2000
44
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
Makoto Asahina, Reiko Fujinawa, Sayuri Nakamura, Kotaro Yokoyama, Ryuichi Tozawa, Tadashi Suzuki. Hum Mol Genet 2020
44
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
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
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
Senthil K Radhakrishnan, Candy S Lee, Patrick Young, Anne Beskow, Jefferson Y Chan, Raymond J Deshaies. Mol Cell 2010
33
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
Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar. JIMD Rep 2020
33
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
Nasrin Habibi-Babadi, Anna Su, Carlos E de Carvalho, Antonio Colavita. J Neurosci 2010
33
The cytoplasmic peptide:N-glycanase (Ngly1)-basic science encounters a human genetic disorder.
Tadashi Suzuki. J Biochem 2015
Tadashi Suzuki. J Biochem 2015
33
The genetic basis of cellular morphogenesis in the filamentous fungus Neurospora crassa.
Stephan Seiler, Michael Plamann. Mol Biol Cell 2003
Stephan Seiler, Michael Plamann. Mol Biol Cell 2003
33
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
Britt J van Keulen, Joost Rotteveel, Martijn J J Finken. Physiol Rep 2019
33
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
Seung Yeop Han, Ashutosh Pandey, Tereza Moore, Antonio Galeone, Lita Duraine, Tina M Cowan, Hamed Jafar-Nejad. PLoS Genet 2020
33
A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency.
Dana M Talsness, Katie G Owings, Emily Coelho, Gaelle Mercenne, John M Pleinis, Raghavendran Partha, Kevin A Hope, Aamir R Zuberi, Nathan L Clark, Cathleen M Lutz,[...]. Elife 2020
Dana M Talsness, Katie G Owings, Emily Coelho, Gaelle Mercenne, John M Pleinis, Raghavendran Partha, Kevin A Hope, Aamir R Zuberi, Nathan L Clark, Cathleen M Lutz,[...]. Elife 2020
33
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
Makoto Asahina, Reiko Fujinawa, Haruhiko Fujihira, Yuki Masahara-Negishi, Tomohiro Andou, Ryuichi Tozawa, Tadashi Suzuki. Proc Jpn Acad Ser B Phys Biol Sci 2021
37
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
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
22
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
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
22
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
Charlotte L Alston, Mariana C Rocha, Nichola Z Lax, Doug M Turnbull, Robert W Taylor. J Pathol 2017
22
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
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
22
AMPK: guardian of metabolism and mitochondrial homeostasis.
Sébastien Herzig, Reuben J Shaw. Nat Rev Mol Cell Biol 2018
Sébastien Herzig, Reuben J Shaw. Nat Rev Mol Cell Biol 2018
22
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
Michelle L Bland, Robert J Lee, Julie M Magallanes, J Kevin Foskett, Morris J Birnbaum. Dev Biol 2010
22
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
Gang Zhao, Guangtao Li, Xiaoke Zhou, Ichiro Matsuo, Yukishige Ito, Tadashi Suzuki, William J Lennarz, Hermann Schindelin. Glycobiology 2009
22
The Neurospora peptide:N-glycanase ortholog PNG1 is essential for cell polarity despite its lack of enzymatic activity.
Sabine Maerz, Yoko Funakoshi, Yuki Negishi, Tadashi Suzuki, Stephan Seiler. J Biol Chem 2010
Sabine Maerz, Yoko Funakoshi, Yuki Negishi, Tadashi Suzuki, Stephan Seiler. J Biol Chem 2010
22
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.