Results 201 to 210 of about 250,267 (298)

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr   +5 more
wiley   +1 more source

Targeting of Human Mitochondrial DNA with Programmable pAgo Nuclease. [PDF]

open access: yesCells
Rimskaya B   +9 more
europepmc   +1 more source

Tree shrew model of early diabetic retinopathy reveals microvascular dysfunction and identifies phosphoserine aminotransferase 1 as a novel therapeutic target

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We developed an animal model of early diabetic retinopathy (DR) in the tree shrew by feeding a high‐fat and high‐sugar diet in combination with STZ. Physiological and biochemical index detection, hematoxylin and eosin staining, and transmission electron microscopy were performed to examine DR.
Min Qiu   +10 more
wiley   +1 more source

Transport of proteins into mitochondria [PDF]

open access: yes, 1985
Kroon, A. M.   +9 more
core  

A comprehensive proteome and phosphoproteome atlas across nine organs of the Chinese hamster

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study presents the first comprehensive proteome and phosphoproteome atlas of the Chinese hamster across nine organs (heart, liver, lung, kidney, spleen, cerebral cortex, skeletal muscle, stomach, and testis or ovary). A total of 14 219 proteins were identified in the proteome, with 11 828 phosphorylated proteins and 47 122 phosphorylation sites ...
Luyao Zhang   +15 more
wiley   +1 more source

Significance of 80-S ribosomes associated with Neurospora crassa mitochondria [PDF]

open access: yes, 1976
Bücher, Theodor   +8 more
core  

Alternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target

open access: yesAnnals of Neurology, EarlyView.
Objective Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...
Arian Hach   +14 more
wiley   +1 more source

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