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  1. AU="Thachillath Pramathan"
  2. AU="Robert D Arbeit"
  3. AU="Baize, Nathalie"
  4. AU="Tovar, M"
  5. AU="Zhou, Cailong"
  6. AU="Hollemans, Eva"
  7. AU=Celik Hulya Gamze
  8. AU="Si-Yu Sun"
  9. AU=Kraemer Moritz U G
  10. AU="Valenzuela Gamarra, Luis"
  11. AU="Balgobin, Kristian"
  12. AU="Dayez, J"
  13. AU="Thet, Suwannee"
  14. AU="Ganesan, Subramanian"
  15. AU="Azarkamand, Sahar"
  16. AU="Murata, Chiori"
  17. AU="Lin, Chao-Hsu"
  18. AU="Hachach-Haram, Nadine"
  19. AU="Hayashi, Marito"
  20. AU="Long, Wanjun"
  21. AU="Tan, Yu-Qing"
  22. AU="Bellonzi, A."
  23. AU="Mesina, Anna"
  24. AU="Barrios, Joshua"
  25. AU="Mackridge, Adam J"
  26. AU="Shin, Da Wi"
  27. AU="Musmarra, Isidoro"
  28. AU="Mendenhall, Emily"
  29. AU="Hesselmann, Felicitas"

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  1. Artikel ; Online: Forebrain cellular bioenergetics in neonatal mice.

    Narchi, Hassib / Thachillath, Pramathan / Souid, Abdul-Kader

    Journal of neonatal-perinatal medicine

    2018  Band 11, Heft 1, Seite(n) 79–86

    Abstract: Background: Hypoglycemia occurs frequently in the neonate and may result in neurologic dysfunction. Its impact on the kinetics of cellular respiration and bioenergetics in the neonatal brain remains to be explored.: Aims: Develop murine model to ... ...

    Abstract Background: Hypoglycemia occurs frequently in the neonate and may result in neurologic dysfunction. Its impact on the kinetics of cellular respiration and bioenergetics in the neonatal brain remains to be explored.
    Aims: Develop murine model to investigate the effects of hypoglycemia on neonatal brain bioenergetics.
    Study design: Forebrain fragments were excised from euthanized BALB/c pups aged <24 hours to 14 days. We measured cellular respiration (μM O2 min-1.mg-1) in phosphate-buffered saline with and without glucose, using phosphorescence oxygen analyzer, as well as cellular adenosine triphosphate (ATP, nmol.mg-1) using the luciferin-luciferase system.
    Results: In the presence of glucose, although cellular respiration was 11% lower in pups ≤3 days compared to those 3- 14 days old (0.48 vs. 0.54), that difference was not statistically significant (p = 0.14). Respiration driven by endogenous metabolic fuels (without added glucose) was 16% lower in pups ≤3 days compared to those 3- 14 days (0.35 vs. 0.42, p = 0.03), confirming their increased dependency on exogenous glucose. Although cellular ATP was similar between the two age groups (14.9 vs. 11.2, p = 0.32), the ATP content was more severely depleted without added glucose in the younger pups, especially in the presence of the cytochrome c oxidase inhibitor cyanide. The first-order rate constant of cellular ATP decay (hydrolysis) was 44% lower in 2-day-old pups compared to 14-day-old mice (0.43 vs. 0.77 min-1, p = 0.03).
    Conclusions: Forebrain cellular respiration and ATP consumption are lower in young pups than older mice. In the absence of glucose, the support for these processes is reduced in young pups, explaining their brain hypersensitivity to hypoglycemia.
    Mesh-Begriff(e) Adenosine Triphosphate/metabolism ; Age Factors ; Animals ; Animals, Newborn/physiology ; Cell Respiration/drug effects ; Disease Models, Animal ; Electron Transport Complex IV/antagonists & inhibitors ; Energy Metabolism ; Glucose/pharmacology ; Hypoglycemia/physiopathology ; Mice ; Mice, Inbred BALB C ; Oxygen Consumption/drug effects ; Prosencephalon/metabolism ; Prosencephalon/physiopathology ; Sodium Cyanide/pharmacology
    Chemische Substanzen Adenosine Triphosphate (8L70Q75FXE) ; Electron Transport Complex IV (EC 1.9.3.1) ; Glucose (IY9XDZ35W2) ; Sodium Cyanide (O5DDB9Z95G)
    Sprache Englisch
    Erscheinungsdatum 2018-03-29
    Erscheinungsland Netherlands
    Dokumenttyp Journal Article
    ZDB-ID 2435387-5
    ISSN 1878-4429 ; 1934-5798
    ISSN (online) 1878-4429
    ISSN 1934-5798
    DOI 10.3233/NPM-181737
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement

    Nadia A. Akawi / Salma Ben-Salem / Jozef Hertecant / Anne John / Thachillath Pramathan / Praseetha Kizhakkedath / Bassam R. Ali / Lihadh Al-Gazali

    Orphanet Journal of Rare Diseases, Vol 11, Iss 1, Pp 1-

    2016  Band 9

    Abstract: Abstract Background The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders. Results We describe a highly inbred consanguineous Pakistani family with multiple affected children in 2 ...

    Abstract Abstract Background The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders. Results We describe a highly inbred consanguineous Pakistani family with multiple affected children in 2 branches exhibiting moderately severe global developmental delay. Using homozygosity mapping, we mapped the phenotype in this family to a single locus on chromosome 17. In addition, whole-exome sequencing identified a homozygous splicing mutation (c.1423 + 2 T > A) in ELAC2 gene that disrupted the canonical donor splice site of intron 15 of all known isoforms. A noticeable reduction in ELAC2 expression was observed in patients compared to controls. In addition, patients exhibited significantly increased levels of 5′ end unprocessed mt-RNAs compared to the control fibroblast cells. Conclusions The only three previously reported families with defects in ELAC2 gene exhibited infantile hypertrophic cardiomyopathy and complex I deficiency. In contrast, our patients exhibited intellectual disability as the main feature with minimal cardiac involvement. Therefore our findings expand the phenotypic spectrum of ELAC2- associated disorders illustrating clinical heterogeneity of mutations in this gene. In addition, ELAC2 mutations should be considered when evaluating patient with mainly intellectual disability phenotypes.
    Schlagwörter ELAC2 ; Mitochondrial disorder ; 5′ end unprocessed mt-RNAs ; Splice site mutation ; Intellectual disability ; Respiratory chain complex I (RCCI) deficiency ; Medicine ; R
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2016-10-01T00:00:00Z
    Verlag BMC
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  3. Artikel ; Online: Mitochondrial Oxygen Consumption by the Foreskin and its Fibroblast-rich Culture

    Fatma Al-Jasmi / Thachillath Pramathan / Adnan Swid / Bahjat Sahari / Harvey S. Penefsky / Abdul-Kader Souid

    Sultan Qaboos University Medical Journal : SQUMJ, Vol 13, Iss 3, Pp 411-

    2013  Band 416

    Abstract: Objectives: This study investigated the feasibility of using a phosphorescence oxygen analyser to measure cellular respiration (mitochondrial O2 consumption) in foreskin samples and their fibroblast-rich cultures. Methods: Foreskin specimens from normal ... ...

    Abstract Objectives: This study investigated the feasibility of using a phosphorescence oxygen analyser to measure cellular respiration (mitochondrial O2 consumption) in foreskin samples and their fibroblast-rich cultures. Methods: Foreskin specimens from normal infants were collected immediately after circumcision and processed for measuring cellular respiration and for culture. Cellular mitochondrial O2 consumption was determined as a function of time from the phosphorescence decay of the Pd (II) meso-tetra-(4 sulfonatophenyl)-tetrabenzoporphyrin. Results: In sealed vials containing a foreskin specimen and glucose, O2 concentration decreased linearly with time, confirming the zero-order kinetics of O2 consumption by cytochrome oxidase. Cyanide inhibited O2 consumption,confirming that the oxidation occurred mainly in the mitochondrial respiratory chain. The rate of foreskin respiration (mean ± SD) was 0.074 ± 0.02 μM O2 min-1 mg-1 (n = 23). The corresponding rate for fibroblast-rich cultures was 9.84 ± 2.43 μM O2 min-1 per 107 cells (n = 15). Fibroblast respiration was significantly lower in a male infant with dihydrolipoamide dehydrogenase gene mutations, but normalised with the addition of thiamine or carnitine. Conclusion: The foreskin and its fibroblast-rich culture are suitable for assessment of cellular respiration. However, the clinical utility of foreskin specimens to detect disorders of impaired cellular bioenergetics requires further investigation.
    Schlagwörter Oxygen ; Mitochondria ; Foreskin ; Respiration ; Fibroblasts ; Dihydrolipoamide dehydrogenase ; Thiamine ; Carnitine ; Medicine (General) ; R5-920 ; Medicine ; R ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2013-06-01T00:00:00Z
    Verlag Sultan Qaboos University
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  4. Artikel ; Online: Mitochondrial Oxygen Consumption by the Foreskin and its Fibroblast-rich Culture

    Fatma Al-Jasmi / Thachillath Pramathan / Adnan Swid / Bahjat Sahari / Harvey S. Penefsky / Abdul-Kader Souid

    Sultan Qaboos University Medical Journal, Vol 13, Iss 3, Pp 411-

    2013  Band 416

    Abstract: Objectives: This study investigated the feasibility of using a phosphorescence oxygen analyser to measure cellular respiration (mitochondrial O2 consumption) in foreskin samples and their fibroblast-rich cultures.Methods: Foreskin specimens from normal ... ...

    Abstract Objectives: This study investigated the feasibility of using a phosphorescence oxygen analyser to measure cellular respiration (mitochondrial O2 consumption) in foreskin samples and their fibroblast-rich cultures.Methods: Foreskin specimens from normal infants were collected immediately after circumcision and processed for measuring cellular respiration and for culture. Cellular mitochondrial O2 consumption was determined as a function of time from the phosphorescence decay of the Pd (II) meso-tetra-(4-sulfonatophenyl)-tetrabenzoporphyrin. Results: In sealed vials containing a foreskin specimen and glucose, O2 concentration decreased linearly with time, confirming the zero-order kinetics of O2 consumption by cytochrome oxidase. Cyanide inhibited O2 consumption, confirming that the oxidation occurred mainly in the mitochondrial respiratory chain. The rate of foreskin respiration (mean ± SD) was 0.074 ± 0.02 μM O2 min-1 mg-1 (n = 23). The corresponding rate for fibroblast-rich cultures was 9.84 ± 2.43 μM O2 min-1 per 107 cells (n = 15). Fibroblast respiration was significantly lower in a male infant with dihydrolipoamide dehydrogenase gene mutations, but normalised with the addition of thiamine or carnitine. Conclusion: The foreskin and its fibroblast-rich culture are suitable for assessment of cellular respiration. However, the clinical utility of foreskin specimens to detect disorders of impaired cellular bioenergetics requires further investigation.
    Schlagwörter oxygen ; mitochondria ; foreskin ; respiration ; fibroblasts ; dihydrolipoamide dehydrogenase ; thiamine ; carnitine ; Medicine ; R
    Thema/Rubrik (Code) 610
    Sprache Englisch
    Erscheinungsdatum 2013-08-01T00:00:00Z
    Verlag Sultan Qaboos University
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  5. Artikel ; Online: Defect in phosphoinositide signalling through a homozygous variant in

    Ben-Salem, Salma / Robbins, Sarah M / Lm Sobreira, Nara / Lyon, Angeline / Al-Shamsi, Aisha M / Islam, Barira K / Akawi, Nadia A / John, Anne / Thachillath, Pramathan / Al Hamed, Sania / Valle, David / Ali, Bassam R / Al-Gazali, Lihadh

    Journal of medical genetics

    2017  Band 55, Heft 2, Seite(n) 122–130

    Abstract: Background: Bone dysplasias are a large group of disorders affecting the growth and structure of the skeletal system.: Methods: In the present study, we report the clinical and molecular delineation of a new form of syndromic autosomal recessive ... ...

    Abstract Background: Bone dysplasias are a large group of disorders affecting the growth and structure of the skeletal system.
    Methods: In the present study, we report the clinical and molecular delineation of a new form of syndromic autosomal recessive spondylometaphyseal dysplasia (SMD) in two Emirati first cousins. They displayed postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding and intellectual disability. Whole genome homozygosity mapping localised the genetic cause to 11q12.1-q13.1, a region spanning 19.32 Mb with ~490 genes. Using whole exome sequencing, we identified four novel homozygous variants within the shared block of homozygosity. Pathogenic variants in genes involved in phospholipid metabolism, such as
    Results: The identified variant (c.2632G>T) substitutes a serine for a highly conserved alanine within the Ha2' element of the proximal C-terminal domain. This disrupts binding of the Ha2' element to the catalytic core and destabilises PLCB3. Here we show that this hypomorphic variant leads to elevated levels of PIP
    Conclusions: Our results connect a homozygous loss of function variant in
    Mesh-Begriff(e) Amino Acid Substitution ; Child ; Child, Preschool ; Chromosomes, Human, Pair 11 ; Corneal Dystrophies, Hereditary/etiology ; Corneal Dystrophies, Hereditary/genetics ; Developmental Disabilities/etiology ; Developmental Disabilities/genetics ; Female ; Homozygote ; Humans ; Infant, Newborn ; Intellectual Disability/genetics ; Male ; Osteochondrodysplasias/etiology ; Osteochondrodysplasias/genetics ; Pedigree ; Phosphatidylinositols/genetics ; Phosphatidylinositols/metabolism ; Phospholipase C beta/genetics ; Phospholipase C beta/metabolism ; Signal Transduction/genetics
    Chemische Substanzen Phosphatidylinositols ; PLCB3 protein, human (EC 3.1.4.11) ; Phospholipase C beta (EC 3.1.4.11)
    Sprache Englisch
    Erscheinungsdatum 2017-11-09
    Erscheinungsland England
    Dokumenttyp Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 220881-7
    ISSN 1468-6244 ; 0022-2593
    ISSN (online) 1468-6244
    ISSN 0022-2593
    DOI 10.1136/jmedgenet-2017-104827
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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