scholarly journals The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

2018 ◽  
Vol 40 (3) ◽  
pp. 299-309 ◽  
Author(s):  
Katta M. Girisha ◽  
Leonie von Elsner ◽  
Kausthubham Neethukrishna ◽  
Mamta Muranjan ◽  
Anju Shukla ◽  
...  
Keyword(s):  
Mitochondrial Function ◽  
Homozygous Variant ◽  
Spondyloepimetaphyseal Dysplasia

scholarly journals Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1

2020 ◽  
Vol 182 (7) ◽  
pp. 1796-1800
Author(s):  
Daniel R. Carvalho ◽  
Carlos E. Speck‐Martins ◽  
Jaime M. Brum ◽  
Carlos R. Ferreira ◽  
Nara L. M. Sobreira
Keyword(s):  
Lysosomal Enzymes ◽  
Elevated Plasma ◽  
Homozygous Variant ◽  
Spondyloepimetaphyseal Dysplasia

Rigorous swim training impairs mitochondrial function in post-ischaemic rat heart

1997 ◽  
Vol 160 (1) ◽  
pp. 139-148
Author(s):  
S.B. LEICHTWEIS ◽  
C. LEEUWENBURGH ◽  
D. J. PARMELEE ◽  
R. FIEBIG ◽  
L. L. JI
Keyword(s):  
Mitochondrial Function ◽  
Rat Heart

Residual hepatic mitochondrial function assessment through 13C-methionine, 13C-octanoate and 13C-ketoisocaproate breath tests

2001 ◽  
Vol 120 (5) ◽  
pp. A566-A566
Author(s):  
A ARMUZZI ◽  
M ZOCCO ◽  
M CANDELLI ◽  
C DICAMPLI ◽  
E NISTA ◽  
...  
Keyword(s):  
Mitochondrial Function ◽  
Breath Tests ◽  
Function Assessment

Exercise Induced Impairment of Mitochondrial Function is Limited to the Subsarcolemmal Subpopulation

2015 ◽  
Vol 63 (S 01) ◽  
Author(s):  
M. Schwarzer ◽  
A. Schrepper ◽  
E. Heyne ◽  
C. Werner ◽  
L. Kaiser ◽  
...  
Keyword(s):  
Mitochondrial Function ◽  
Exercise Induced

Extracellular citrate impacts hypothalamic mitochondrial function and activates AMPK

2018 ◽  
Author(s):  
M Schell ◽  
S Meyer ◽  
M Rath ◽  
T Schwerdtle ◽  
A Kleinridders
Keyword(s):  
Mitochondrial Function
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