Literature DB >> 28436574

Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.

H Díez1, E Cortès-Saladelafont2,3, A Ormazábal3,4, A Fernández Marmiese3,5, J Armstrong3,4, Leslie Matalonga3,6, Miren Bravo3,6, Paz Briones7, Sonia Emperador3,8, Julio Montoya3,8, Rafael Artuch3,4, Marisa Giros3,6, Àngels Garcia-Cazorla1,2,3.   

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Year:  2017        PMID： 28436574     DOI： 10.1002/mds.27021

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  8 in total

1.  Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.

Authors:  Elisenda Cortès-Saladelafont; Noa Lipstein; Àngels García-Cazorla
Journal:  J Inherit Metab Dis       Date:  2018-07-18       Impact factor: 4.982

Review 2.  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

Review 3.  Synaptic metabolism: a new approach to inborn errors of neurotransmission.

Authors:  Alba Tristán-Noguero; Àngels García-Cazorla
Journal:  J Inherit Metab Dis       Date:  2018-07-16       Impact factor: 4.982

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

Authors:  Xingmiao Liu; Zhongbin Zhang; Dong Li; Meifang Lei; Qing Li; Xiaojun Liu; Peiyuan Zhang
Journal:  Front Pediatr       Date:  2021-07-08       Impact factor: 3.418

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

Authors:  Nurit Assia Batzir; Pranjali K Bhagwat; Tanya N Eble; Pengfei Liu; Christine M Eng; Sarah H Elsea; Laurie A Robak; Fernando Scaglia; Alica M Goldman; Shweta U Dhar; Michael F Wangler
Journal:  Cold Spring Harb Mol Case Stud       Date:  2019-06-03

Review 6.  Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches.

Authors:  Michela Di Nottia; Daniela Verrigni; Alessandra Torraco; Teresa Rizza; Enrico Bertini; Rosalba Carrozzo
Journal:  Genes (Basel)       Date:  2021-02-10       Impact factor: 4.096

7.  Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms.

Authors:  Kelsey A Nolden; John M Egner; Jack J Collier; Oliver M Russell; Charlotte L Alston; Megan C Harwig; Michael E Widlansky; Souphatta Sasorith; Inês A Barbosa; Andrew Gl Douglas; Julia Baptista; Mark Walker; Deirdre E Donnelly; Andrew A Morris; Hui Jeen Tan; Manju A Kurian; Kathleen Gorman; Santosh Mordekar; Charu Deshpande; Rajib Samanta; Robert McFarland; R Blake Hill; Robert W Taylor; Monika Oláhová
Journal:  Life Sci Alliance       Date:  2022-08-01

Review 8.  Fission Impossible (?)-New Insights into Disorders of Peroxisome Dynamics.

Authors:  Ruth E Carmichael; Markus Islinger; Michael Schrader
Journal:  Cells       Date:  2022-06-14       Impact factor: 7.666
  8 in total

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