Search Results - "Smeitink JAM"

Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I.

Authors: Lo, Russell S. Cromie, Gareth A. Tang, Michelle et al.

Source: PLoS Genetics. 6/17/2026, Vol. 22 Issue 6, p1-22. 22p.

Author Index.

Source: European Journal of Clinical Investigation. Apr2019 Supplement 1, Vol. 49, p222-234. 13p.

Mitochondrial complex I deficiency-associated diseases and models.

Authors: Jentsch L Ventura N

Source: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2026 Jun 10; Vol. 83 (1). Date of Electronic Publication: 2026 Jun 10.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

Single-cell transcriptomics reveals stepwise transformation of epithelial cells into Non-Professional Phagocytes.

Authors: Almeida Machado Costa, Caique Santiago-Santiago, Cristian Alejandro Huang, Yi-Chun et al.

Source: PLoS Genetics. 12/4/2025, Vol. 21 Issue 12, p1-28. 28p.

Mitochondrial targeting by measles virus nucleoprotein modulates viral spread in human airway epithelium.

Authors: Durnell-Bettis, Lorellin A. Clark, Stephanie E. Hippee, Camilla E. et al.

Source: PLoS Pathogens. 11/20/2025, Vol. 21 Issue 11, p1-24. 24p.

STIM1-containing contact sites promote direct calcium flux from the endoplasmic reticulum to mitochondria.

Authors: Orantos-Aguilera Y Sanchez-Lopez I Pascual-Caro C et al.

Source: The EMBO journal [EMBO J] 2026 Mar; Vol. 45 (5), pp. 1760-1793. Date of Electronic Publication: 2026 Feb 11.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2075 (Electronic) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE

Author Index.

Source: European Journal of Clinical Investigation. Apr2016 Supplement, Vol. 46, p127-134. 8p.

Author Index.

Source: European Journal of Clinical Investigation. May2015 Supplement, Vol. 45, p93-97. 5p.

Small-scale protocols to characterize mitochondrial Complex V activity and assembly in peripheral blood mononuclear cells.

Authors: Chau, Kai-Yin Taanman, Jan-Willem Schapira, Anthony H.V.

Source: PLoS ONE. 5/8/2025, Vol. 20 Issue 5, p1-13. 13p.

Author Index.

Source: European Journal of Clinical Investigation. May2014 Supplement, Vol. 44, p87-91. 5p.

A brief history of the human liver peroxisome.

Authors: De Craemer D Van den Branden C Roels F

Source: Histochemistry and cell biology [Histochem Cell Biol] 2026 Jun 04; Vol. 164 (1). Date of Electronic Publication: 2026 Jun 04.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 9506663 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-119X (Electronic) Linking ISSN: 09486143 NLM ISO Abbreviation: Histochem Cell Biol Subsets: MEDLINE

Rab11a-dependent recycling of Glut3 inhibits seizure-induced neuronal disulfidptosis by alleviating glucose deficiency.

Authors: Li, Sijun He, Junrui Kuang, Huimin et al.

Source: Cell & Bioscience. 5/28/2025, Vol. 15 Issue 1, p1-12. 12p.

Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye.

Authors: ÖZSAYDI AKTAŞOĞLU, Ekin İNCİ, Aslı ÖKTEM, Rıdvan Murat et al.

Source: Turkish Journal of Medical Sciences. 2025, Vol. 55 Issue 3, Following p585-594. 13p.

Isoeugenol Inhibits Sphingosine Kinase 1 (SphK1) and Induces Cytotoxicity in Breast Cancer Cells.

Authors: Alnamshan, Mashael M. Al-Dhuayan, Ibtesam S.

Source: Advancements in Life Sciences. Mar2026, Vol. 13 Issue 1, p1-11. 11p.

Molecular Alterations in Core Subunits of Mitochondrial Complex I and Their Relation to Parkinson's Disease.

Authors: Epifane-de-Assunção MC Bispo AG Ribeiro-Dos-Santos  et al.

Source: Molecular neurobiology [Mol Neurobiol] 2025 Jun; Vol. 62 (6), pp. 6968-6982. Date of Electronic Publication: 2024 Sep 27.

Publication Type: Journal Article; Review

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1182 (Electronic) Linking ISSN: 08937648 NLM ISO Abbreviation: Mol Neurobiol Subsets: MEDLINE

Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.

Authors: Scarcella, Simone Dell'Arti, Laura Gagliardi, Delia et al.

Source: BMC Neurology. 10/13/2023, Vol. 23 Issue 1, p1-7. 7p.

A different pattern of clinical, muscle pathology and brain MRI findings in MELAS with mt‐ND variants.

Authors: Wang, Wei Zhao, Yuying Xu, Xuebi et al.

Source: Annals of Clinical & Translational Neurology. Jun2023, Vol. 10 Issue 6, p1035-1045. 11p.

Mitochondrial proteins and congenital birth defect risk: a mendelian randomization study.

Authors: Li, Xin-yu Li, Da-tao Li, Yi-yuan et al.

Source: BMC Pregnancy & Childbirth. 4/14/2025, Vol. 25 Issue 1, p1-10. 10p.

Leigh Syndrome Pathomechanism Involves Region-Specific Innate Immune Activation in Ndufs4 Knockout Mice.

Authors: Fouché BR Khumalo SG Koopman WJH et al.

Source: Cellular and molecular neurobiology [Cell Mol Neurobiol] 2026 Feb 04; Vol. 46 (1), pp. 42. Date of Electronic Publication: 2026 Feb 04.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8200709 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-6830 (Electronic) Linking ISSN: 02724340 NLM ISO Abbreviation: Cell Mol Neurobiol Subsets: MEDLINE

Cholesterol-depleting dextrin depolarizes sarcolemma: the contribution of sodium / calcium channels and membrane integrity.

Authors: Tupitsyna AD Fedorov NS Khabibrakhmanova VR et al.

Source: Pflugers Archiv : European journal of physiology [Pflugers Arch] 2026 Jun 17; Vol. 478 (7). Date of Electronic Publication: 2026 Jun 17.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 0154720 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-2013 (Electronic) Linking ISSN: 00316768 NLM ISO Abbreviation: Pflugers Arch Subsets: MEDLINE