Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.

Literature DB >> 27301544

DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.

K Zaha¹, H Matsumoto², M Itoh³, H Saitsu⁴, K Kato⁵, M Kato⁶, S Ogata⁵, K Murayama⁷, Y Kishita⁸, Y Mizuno^8,9, M Kohda⁹, I Nishino¹⁰, A Ohtake¹¹, Y Okazaki^8,9, N Matsumoto⁴, S Nonoyama¹.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2016 PMID： 27301544 DOI： 10.1111/cge.12805

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

Keyword Cloud
Cited

× No keyword cloud information.

16 in total

Review 1. Mitochondrial dynamics and their potential as a therapeutic target.

Authors: B N Whitley; E A Engelhart; S Hoppins
Journal: Mitochondrion Date: 2019-06-19 Impact factor: 4.160

2. Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.

Authors: David Cheillan
Journal: Adv Exp Med Biol Date: 2020 Impact factor: 2.622

Review 3. Mitochondrial division, fusion and degradation.

Authors: Daisuke Murata; Kenta Arai; Miho Iijima; Hiromi Sesaki
Journal: J Biochem Date: 2020-03-01 Impact factor: 3.387

Review 4. De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus.

Authors: Conor S Ryan; Anthony L Fine; Alexander L Cohen; Brenda M Schiltz; Deborah L Renaud; Elaine C Wirrell; Marc C Patterson; Nicole J Boczek; Raymond Liu; Dusica Babovic-Vuksanovic; David C Chan; Eric T Payne
Journal: J Child Neurol Date: 2018-06-07 Impact factor: 1.987

Review 5. Mitochondrial dynamics and its impact on human health and diseases: inside the DRP1 blackbox.

Authors: Riddhi Banerjee; Agradeep Mukherjee; Shirisha Nagotu
Journal: J Mol Med (Berl) Date: 2021-10-16 Impact factor: 4.599

6. Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.

Authors: Brittany N Whitley; Christina Lam; Hong Cui; Katrina Haude; Renkui Bai; Luis Escobar; Afifa Hamilton; Lauren Brady; Mark A Tarnopolsky; Lauren Dengle; Jonathan Picker; Sharyn Lincoln; Laura L Lackner; Ian A Glass; Suzanne Hoppins
Journal: Hum Mol Genet Date: 2018-11-01 Impact factor: 6.150

DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.

Review 1. Mitochondrial dynamics and their potential as a therapeutic target.

2. Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.

Review 3. Mitochondrial division, fusion and degradation.

Review 4. De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus.

Review 5. Mitochondrial dynamics and its impact on human health and diseases: inside the DRP1 blackbox.

6. Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes.

7. DNM1L-Related Mitochondrial Fission Defects Presenting as Encephalopathy: A Case Report and Literature Review.

Review 8. The peroxisome: an update on mysteries 2.0.

9. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures.

10. Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells.