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
Times Cited: 11
Times Cited
Times Co-cited
Similarity
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
81
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
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
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
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
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
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
63
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
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
Kun Yang, Ryan Huang, Haruhiko Fujihira, Tadashi Suzuki, Nan Yan. J Exp Med 2018
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
Jianping Kong, Min Peng, Julian Ostrovsky, Young Joon Kwon, Olga Oretsky, Elizabeth M McCormick, Miao He, Yair Argon, Marni J Falk. Mitochondrion 2018
63
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Kuerbanjiang Abuduxikuer, Lin Zou, Lei Wang, Li Chen, Jian-She Wang. J Hum Genet 2020
Kuerbanjiang Abuduxikuer, Lin Zou, Lei Wang, Li Chen, Jian-She Wang. J Hum Genet 2020
66
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
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
Patryk Lipiński, Anna Bogdańska, Agnieszka Różdżyńska-Świątkowska, Aldona Wierzbicka-Rucińska, Anna Tylki-Szymańska. JIMD Rep 2020
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
Britt J van Keulen, Joost Rotteveel, Martijn J J Finken. Physiol Rep 2019
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
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
45
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
50
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
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
Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar. JIMD Rep 2020
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
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
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
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
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
Ping He, Jeff E Grotzke, Bobby G Ng, Murat Gunel, Hamed Jafar-Nejad, Peter Cresswell, Gregory M Enns, Hudson H Freeze. Glycobiology 2015
36
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
36
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
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
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
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
Antonio Galeone, Seung Yeop Han, Chengcheng Huang, Akira Hosomi, Tadashi Suzuki, Hamed Jafar-Nejad. Elife 2017
36
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
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
Haruhiko Fujihira, Yuki Masahara-Negishi, Masaru Tamura, Chengcheng Huang, Yoichiro Harada, Shigeharu Wakana, Daisuke Takakura, Nana Kawasaki, Naoyuki Taniguchi, Gen Kondoh,[...]. PLoS Genet 2017
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
Haixia Ge, Qingbin Wu, Huigang Lu, Yong Huang, Tingting Zhou, Danlin Tan, ZhongqinJin. BMC Med Genet 2020
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
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
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
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
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
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
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
Tamy Portillo Rodriguez, Joshua D Mast, Tom Hartl, Tom Lee, Peter Sand, Ethan O Perlstein. G3 (Bethesda) 2018
27
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
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
Katie G Owings, Joshua B Lowry, Yiling Bi, Matthew Might, Clement Y Chow. Hum Mol Genet 2018
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
Senthil K Radhakrishnan, Candy S Lee, Patrick Young, Anne Beskow, Jefferson Y Chan, Raymond J Deshaies. Mol Cell 2010
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
Seung Yeop Han, Ashutosh Pandey, Tereza Moore, Antonio Galeone, Lita Duraine, Tina M Cowan, Hamed Jafar-Nejad. PLoS Genet 2020
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
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
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
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
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
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
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
75
18
A role for N-glycanase in the cytosolic turnover of glycoproteins.
Christian Hirsch, Daniël Blom, Hidde L Ploegh. EMBO J 2003
Christian Hirsch, Daniël Blom, Hidde L Ploegh. EMBO J 2003
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
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
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
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
Charlotte L Alston, Mariana C Rocha, Nichola Z Lax, Doug M Turnbull, Robert W Taylor. J Pathol 2017
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
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
18
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
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
Michelle L Bland, Robert J Lee, Julie M Magallanes, J Kevin Foskett, Morris J Birnbaum. Dev Biol 2010
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
Gang Zhao, Guangtao Li, Xiaoke Zhou, Ichiro Matsuo, Yukishige Ito, Tadashi Suzuki, William J Lennarz, Hermann Schindelin. Glycobiology 2009
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
T Suzuki, H Park, N M Hollingsworth, R Sternglanz, W J Lennarz. J Cell Biol 2000
18
Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease.
Yiling Bi, Matthew Might, Hariprasad Vankayalapati, Balagurunathan Kuberan. Bioorg Med Chem Lett 2017
Yiling Bi, Matthew Might, Hariprasad Vankayalapati, Balagurunathan Kuberan. Bioorg Med Chem Lett 2017
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.