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1 . Academic Journal
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
저자
by
Tessarech, Marine
;
Friocourt, Gaëlle
;
Marguet, Florent
;
Lecointre, Maryline
;
Le Mao, Morgane
, et al.
소스
In
Genetics in Medicine
May 2024 26(5)
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7 . Academic Journal
Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis
저자
by
Enrico Radaelli
;
Charles-Antoine Assenmacher
;
Jillian Verrelle
;
Esha Banerjee
;
Florence Manero
, et al.
소스
eLife, Vol 12 (2023)
Open Access (DOAJ)
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7 . Academic Journal
Warburg-like effect is a hallmark of complex I assembly defects
저자
by
Desquiret-Dumas, Valerie
;
Leman, Geraldine
;
Wetterwald, Celine
;
Chupin, Stephanie
;
Lebert, Anaïs
, et al.
소스
In
BBA - Molecular Basis of Disease
1 September 2019 1865(9):2475-2489
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7 . Academic Journal
Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure
저자
by
Sophie Belal
;
David Goudenège
;
Cinzia Bocca
;
Florent Dumont
;
Juan Manuel Chao De La Barca
, et al.
소스
Biomedicines, Vol 10, Iss 1665, p 1665 (2022)
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7 . Academic Journal
Alteration of Extracellular Nucleotide Metabolism in Pseudoxanthoma Elasticum
저자
by
Kauffenstein, Gilles
;
Yegutkin, Gennady G.
;
Khiati, Salim
;
Pomozi, Viola
;
Le Saux, Olivier
, et al.
소스
In
Journal of Investigative Dermatology
August 2018 138(8):1862-1870
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7 . Academic Journal
Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis.
저자
by
Radaelli, Enrico
;
Assenmacher, Charles-Antoine
;
Verrelle, Jillian
;
Banerjee, Esha
;
Manero, Florence
, et al.
소스
eLife; 9/25/2023, p1-30, 30p
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7 . Academic Journal
The Long Non-Coding RNA SAMMSON Is a Regulator of Chemosensitivity and Metabolic Orientation in MCF-7 Doxorubicin-Resistant Breast Cancer Cells
저자
by
Charlotte Orre
;
Xavier Dieu
;
Jordan Guillon
;
Naïg Gueguen
;
Seyedeh Tayebeh Ahmadpour
, et al.
소스
Biology, Vol 10, Iss 11, p 1156 (2021)
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7 . Academic Journal
Lack of mitochondrial topoisomerase I ( TOP1mt ) impairs liver regeneration
저자
by
Khiati, Salim
;
Baechler, Simone A.
;
Factor, Valentina M.
;
Zhang, Hongliang
;
Huang, Shar-yin N.
, et al.
소스
Proceedings of the National Academy of Sciences of the United States of America, 2015 Sep 01. 112(36), 11282-11287.
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7 .
MELAS syndrome causes glutamate and tricarboxylic acid cycle dysfunctions alleviated by ketone body treatment
저자
by
Belal, Sophie
;
Goudenège, David
;
Bocca, Cinzia
;
Dumont, Florent
;
Chao de la Barca, Juan Manuel
, et al.
소스
Biomedicines
Biomedicines, 2022, 10 (7), pp.1665. ⟨10.3390/biomedicines10071665⟩
Scopus
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7 . Academic Journal
Efficient delivery of therapeutic small nucleic acids to prostate cancer cells using ketal nucleoside lipid nanoparticles
저자
by
Luvino, Delphine
;
Khiati, Salim
;
Oumzil, Khalid
;
Rocchi, Palma
;
Camplo, Michel
, et al.
소스
In
Journal of Controlled Release
28 December 2013 172(3):954-961
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