Results 251 to 260 of about 2,946,422 (305)

HRI protein kinase in cytoplasmic heme sensing and mitochondrial stress response: Relevance to hematological and mitochondrial diseases. [PDF]

J Biol Chem
Chen JJ.
europepmc   +1 more source

Targeting the KCNC3‐Dependent Anterior Insular‐Lateral Orbitofrontal Cortex Glutamatergic Circuit Attenuates Post‐Traumatic Anxiety

Advanced Science, EarlyView.
Frontal lobe traumatic brain injury is associated with hyperactivity of an insular–orbitofrontal circuit in both patients and mice. By combination of integrating functional imaging, cell‐type–specific circuit manipulation, single‐cell transcriptomics, and whole‐cell recordings, this work identifies the downregulation of the potassium channel KCNC3 in ...
Meng‐Ge Li, Xiao‐Bo Qian, Hai‐Long Zhang, Di Li, Ling Ji, Xin‐Chun Xu, Jia‐Sheng Ding, Li‐Jun Yin, Li Zhang, Guang‐Yin Xu, Rong Gao   +10 more
wiley   +1 more source

Resolving Phenotypic Variability in Mitochondrial Diseases: Preliminary Findings of a Proteomic Approach. [PDF]

Int J Mol Sci
Cicchinelli M, Primiano G, Servidei S, Ardito M, Percio A, Urbani A, Iavarone F.   +6 more
europepmc   +1 more source

Chromatin Packing Domain Engineering Through the Manipulation of Nuclear Cationic States

Advanced Science, EarlyView.
Manipulation of intranuclear divalent cation concentrations rapidly and reversibly remodels chromatin packing domains in living cells. Magnesium depletion disrupts domain compaction, heterochromatin organization, and transcriptional regulation, whereas magnesium loading promotes more compact and stable domains.
Cody L. Dunton, Carrillo Paola Gonzalez, Luay Almassalha, Wing Shun Li, Ruyi Gong, Nicolas Acosta, I Chae Ye, Jane Frederick, Christopher Hogg, Saira John, J. A. Gareth Williams, Rikkert J. Nap, Igal Szleifer, Vadim Backman   +13 more
wiley   +1 more source

Beyond the cochlea: exploring the multifaceted nature of hearing loss in primary mitochondrial diseases. [PDF]

Brain Commun
Koohi N, Holmes S, Male A, Bamiou DE, Dudziec MM, Ramdharry GM, Pizzamiglio C, Hanna MG, Pitceathly RDS, Kaski D.   +9 more
europepmc   +1 more source

Endocrine features of primary mitochondrial diseases. [PDF]

Curr Opin Endocrinol Diabetes Obes
Romo L, Gold NB, Walker MA.
europepmc   +1 more source

Mitochondrial diseases and mtDNA editing. [PDF]

Genes Dis
Song M, Ye L, Yan Y, Li X, Han X, Hu S, Yu M.   +6 more
europepmc   +1 more source

The establishment of a molecular diagnostic platform for mitochondrial diseases: From conventional to next-generation sequencing. [PDF]

Biomed J
Tsai NC, Liou CW, Cheng YH, Lien HT, Lin TL, Lin TK, Lan MY, Hung PL, Wang TJ, Lee CH, Liang YC, Lan KC.   +11 more
europepmc   +1 more source

Mitochondrial diseases [PDF]

Nature Reviews Disease Primers, 2016
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) that encode structural mitochondrial proteins or proteins involved in mitochondrial function.
Yasutoshi Koga, Patrick F. Chinnery, Michio Hirano   +2 more
exaly   +11 more sources

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DISEASES OF THE MITOCHONDRIAL DNA

Annual Review of Biochemistry, 1992
INTRODUCTION . . _ . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 175 THE HUMAN MITOCHONDRIAL DNA AND OXIDATIVE PHOSPHORYLATION 1176 Mitochondrial Biogenesis ... 1 176 Mitochondrial OXPHOS Complexes and their Synthesis 1 178 Developmental Regulation of Nuclear OXPHOS Genes ...
Douglas C Wallace
exaly   +3 more sources