Literature DB >> 22040219

A GPHN point mutation leading to molybdenum cofactor deficiency.

J Reiss, U Lenz, C Aquaviva-Bourdain, S Joriot-Chekaf, K Mention-Mulliez, M Holder-Espinasse.   

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Year:  2011        PMID： 22040219     DOI： 10.1111/j.1399-0004.2011.01709.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  11 in total

1.  Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity.

Authors:  Fabrice Ango; Eric Allemand; Raphaël Dos Reis; Etienne Kornobis; Alyssa Pereira; Frederic Tores; Judit Carrasco; Candice Gautier; Céline Jahannault-Talignani; Patrick Nitschké; Christian Muchardt; Andreas Schlosser; Hans Michael Maric
Journal:  Nat Commun       Date:  2022-06-18       Impact factor: 17.694

2.  Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency.

Authors:  Albert L Misko; Ye Liang; Joshua B Kohl; Florian Eichler
Journal:  Neurol Genet       Date:  2020-07-14

3.  Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B.

Authors:  Wenjia Yan; Li Huang; Limei Sun; Xiaoyan Ding
Journal:  Am J Ophthalmol Case Rep       Date:  2022-05-14

Review 4.  Gephyrin: a master regulator of neuronal function?

Authors:  Shiva K Tyagarajan; Jean-Marc Fritschy
Journal:  Nat Rev Neurosci       Date:  2014-03       Impact factor: 34.870

5.  Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.

Authors:  Barbara Scelsa; Serena Gasperini; Andrea Righini; Maria Iascone; Valeria G Brazzoduro; Pierangelo Veggiotti
Journal:  Mol Genet Genomic Med       Date:  2019-03-21       Impact factor: 2.183

6.  The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation.

Authors:  Yu Abe; Yu Aihara; Wakaba Endo; Hiroshi Hasegawa; Kimiyoshi Ichida; Mitsugu Uematsu; Shigeo Kure
Journal:  Mol Genet Metab Rep       Date:  2021-02-01

7.  A novel syndrome of lethal familial hyperekplexia associated with brain malformation.

Authors:  Mohammed Zein Seidahmed; Mustafa A Salih; Omer B Abdulbasit; Meeralebbae Shaheed; Khalid Al Hussein; Abeer M Miqdad; Abdullah K Al Rasheed; Anas M Alazami; Ibrahim A Alorainy; Fowzan S Alkuraya
Journal:  BMC Neurol       Date:  2012-10-27       Impact factor: 2.474

8.  Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.

Authors:  Borislav Dejanovic; Tania Djémié; Nora Grünewald; Arvid Suls; Vanessa Kress; Florian Hetsch; Dana Craiu; Matthew Zemel; Padhraig Gormley; Dennis Lal; Candace T Myers; Heather C Mefford; Aarno Palotie; Ingo Helbig; Jochen C Meier; Peter De Jonghe; Sarah Weckhuysen; Guenter Schwarz
Journal:  EMBO Mol Med       Date:  2015-12       Impact factor: 12.137

9.  Transient Receptor Potential Channel A1 (TRPA1) Regulates Sulfur Mustard-Induced Expression of Heat Shock 70 kDa Protein 6 (HSPA6) In Vitro.

Authors:  Robin Lüling; Harald John; Thomas Gudermann; Horst Thiermann; Harald Mückter; Tanja Popp; Dirk Steinritz
Journal:  Cells       Date:  2018-08-31       Impact factor: 6.600

10.  Synapse and Receptor Alterations in Two Different S100B-Induced Glaucoma-Like Models.

Authors:  Lara Benning; Sabrina Reinehr; Pia Grotegut; Sandra Kuehn; Gesa Stute; H Burkhard Dick; Stephanie C Joachim
Journal:  Int J Mol Sci       Date:  2020-09-23       Impact factor: 5.923
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