X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27

Christianson, Arnold L.; Stevenson, Roger E.; Meyden, C. H. Van Der; Pelser, J.; Theron, F. W.; Rensburg, P. L. Van; Chandler, Matthew; Schwartz, CE

doi:10.1136/jmg.36.10.759

Cited by 108 publications

(155 citation statements)

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“…5322 JOURNAL OF BIOLOGICAL CHEMISTRY VOLUME 290 • NUMBER 9 • FEBRUARY 27, 2015 mutations in NHE6 cause Christianson syndrome, characterized by loss of neurons and glia, massive atrophy of cerebellum, and Tau pathologies (16,18,62). In a study aimed at understanding age-related cognitive changes in the human brain, the NHE6 transcript was found to be significantly down-regulated in aged neocortical areas important for cognitive functions, memory, speech production, and language understanding (association cortex, Broca and Wernicke areas) (63).…”

Section: Nhe6 Regulates A␤ Production In Endosomesmentioning

confidence: 99%

The Na+/H+ Exchanger NHE6 Modulates Endosomal pH to Control Processing of Amyloid Precursor Protein in a Cell Culture Model of Alzheimer Disease

Prasad

Rao

2015

Journal of Biological Chemistry

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Section: Nhe6 Regulates A␤ Production In Endosomesmentioning

confidence: 99%

The Na+/H+ Exchanger NHE6 Modulates Endosomal pH to Control Processing of Amyloid Precursor Protein in a Cell Culture Model of Alzheimer Disease

Prasad

Rao

2015

Journal of Biological Chemistry

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“…gene cause three phenotypes in humans: the most common manifestation is X-linked Angelman syndrome, characterized by intellectual disability, microcephaly, epilepsy, ataxia and behavioural abnormalities [52,163]; second, an Angelman-like syndrome known as Christianson syndrome [31] and finally a syndrome presenting with corticobasal degeneration and tau deposition with severe intellectual disability and autistic behavior [49]. found that some female carriers were mentally retarded, had learning problems or dyslexia without evidence for aberrant X-inactivation suggesting either haploinsufficieny or a dominant-negative effect in female carriers.…”

Section: Nhe6 Is Encoded By the X-chromosome Both In Mice And Humansmentioning

confidence: 99%

Traditional and emerging roles for the SLC9 Na+/H+ exchangers

Fuster

Alexander

2013

Pflugers Arch - Eur J Physiol

141

122

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The SLC9 gene family encodes Na + /H + exchangers (NHEs). These transmembrane proteins transport ions across lipid bilayers in a diverse array of species from prokaryotes to eukaryotes, including plants, fungi and animals. They utilize the electrochemical gradient of one ion to transport another ion against its electrochemical gradient. Currently, 13 evolutionarily conserved NHE isoforms are known in mammals [46,22,128]. The SLC9 gene family (solute carrier classification of transporters:www.bioparadigms.org) is divided into three subgroups [46]. The SLC9A subgroup encompasses plasmalemmal isoforms NHE1-5 (SLC9A1-5) and the predominantly intracellular isoforms NHE6-9 (SLC9A6-9). The SLC9B subgroup consists of two recently cloned isoforms, NHA1 and NHA2 (SLC9B1 and SLC9B2, respectively). The SLC9C subgroup consist of a sperm specific plasmalemmal NHE (SLC9C1) and a putative NHE, SLC9C2, for which there is currently no functional data [46].NHEs participate in the regulation of cytosolic and organellar pH as well as cell volume. In the intestine and kidney, NHEs are critical for transepithelial movement of Na + and HCO 3 -and thus for whole body volume and acid-base homeostasis [46]. Mutations in the NHE6 or NHE9 genes cause neurological disease in humans and are currently the only NHEs directly linked to human disease.However, it is becoming increasingly apparent that members of this gene family contribute to the pathophysiology of multiple human diseases.

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“…The clinical features include apparently happy disposition, severe cognitive delays, ataxia, microcephaly, and a seizure disorder. 51,52 Some may have cerebellar and brain stem atrophy. 51 Although seizures are present in both conditions, the EEG pattern appears to be different.…”

Section: Differential Diagnosismentioning

confidence: 99%