User:IONTRANSP

I'm interested in ion transport.

{{Carrier proteins}}

{{Ion channels}}

{{Membrane transport proteins}}

{{Neurotransmitter transporters}}

{{ABC transporters}}

{{Ion pumps}}

{{Mitochondrial enzymes}}

{{Iron-binding proteins}}

{{Beta globulins}}

{{Acute phase proteins}}

{{Iron metabolism}}

{{Calcium-binding proteins}}

[[Chloride channel]]

  • ANO1 [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2851227 Chloride Channels: Often enigmatic, rarely predictable]

[[Sodium–hydrogen antiporter 3]]

  • [http://ajprenal.physiology.org/content/300/1/F11.full Role of NH3 and NH4+ transporters in renal acid-base transport]
  • [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2878283 Luminal Na+/H+ exchange in the proximal tubule]

[[Voltage-gated proton channel]]

  • [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2894549 Function of the HVCN1 proton channel in airway epithelia and a naturally occurring mutation, M91T]

[[voltage-sensor containing phosphatase]]

  • [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2670076 Voltage-sensing phosphatase: actions and potentials]

References

{{Cite journal | last1 = Feske | first1 = S. | title = CRAC channelopathies | doi = 10.1007/s00424-009-0777-5 | journal = Pflügers Archiv - European Journal of Physiology | volume = 460 | issue = 2 | pages = 417–435 | year = 2010 | pmid = 20111871 | pmc =2885504 }}{{Cite journal | last1 = Feske | first1 = S. | title = CRAC channelopathies | doi = 10.1007/s00424-009-0777-5 | journal = Pflügers Archiv - European Journal of Physiology | volume = 460 | issue = 2 | pages = 417–435 | year = 2010 | pmid = 20111871 | pmc =2885504 }}

Parkinson disease

LRRK2 G2019S accounts for parkinsonism in several families{{Cite journal | last1 = Kachergus | first1 = J. | last2 = Mata | first2 = I. F. | last3 = Hulihan | first3 = M. | last4 = Taylor | first4 = J. P. | last5 = Lincoln | first5 = S. | last6 = Aasly | first6 = J. | last7 = Gibson | first7 = J. M. | last8 = Ross | first8 = O. A. | last9 = Lynch | first9 = T. | last10 = Wiley | doi = 10.1086/429256 | first10 = J. | last11 = Payami | first11 = H. | last12 = Nutt | first12 = J. | last13 = Maraganore | first13 = D. M. | last14 = Czyzewski | first14 = K. | last15 = Styczynska | first15 = M. | last16 = Wszolek | first16 = Z. K. | last17 = Farrer | first17 = M. J. | last18 = Toft | first18 = M. | title = Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European Populations | journal = The American Journal of Human Genetics | volume = 76 | issue = 4 | pages = 672–680 | year = 2005 | pmid = 15726496 | pmc =1199304 }}

There is a functional interaction between LRRK2 and ADP-ribosylation factor GTPase-activating protein 1 (ArfGAP1){{Cite journal | last1 = Stafa | first1 = K. | last2 = Trancikova | first2 = A. | last3 = Webber | first3 = P. J. | last4 = Glauser | first4 = L. | last5 = West | first5 = A. B. | last6 = Moore | first6 = D. J. | editor1-last = Orr | editor1-first = Harry T | title = GTPase Activity and Neuronal Toxicity of Parkinson's Disease–Associated LRRK2 is Regulated by ArfGAP1 | doi = 10.1371/journal.pgen.1002526 | journal = PLoS Genetics | volume = 8 | issue = 2 | pages = e1002526 | year = 2012 | pmid = 22363216 | pmc =3280333 }}

Unlike other known genetic causes of parkinsonism, G2019S LRRK2 mutation causes late onset disease{{Cite journal | last1 = Kett | first1 = L. R. | last2 = Dauer | first2 = W. T. | title = Leucine-rich repeat kinase 2 for beginners: Six key questions | journal = Cold Spring Harbor perspectives in medicine | volume = 2 | issue = 3 | pages = a009407 | year = 2012 | doi = 10.1101/cshperspect.a009407 | pmid = 22393539 | pmc =3282500 }}

G2019S LRRK2 mutation is associated with Lewy body formation which is also characteristic of most cases of Parkinson disease{{Cite journal | last1 = Cookson | first1 = M. R. | last2 = Hardy | first2 = J. | last3 = Lewis | first3 = P. A. | title = Genetic neuropathology of Parkinson's disease | journal = International journal of clinical and experimental pathology | volume = 1 | issue = 3 | pages = 217–231 | year = 2008 | pmid = 18784814 | pmc = 2480564}}

PARK8-causing mutations in LRRK2. Some of the first identified individuals with these mutation were of Basque descent so the protein was called "dardarin" after the Basque word ("dardara") for "tremor".{{Cite journal | last1 = Paisán-Ruı́z | first1 = C. | last2 = Jain | first2 = S. | last3 = Evans | first3 = E. W. | last4 = Gilks | first4 = W. P. | last5 = Simón | first5 = J. | last6 = Van Der Brug | first6 = M. | last7 = López De Munain | first7 = A. L. P. | last8 = Aparicio | first8 = S. | last9 = Gil | first9 = A. M. ́N. | last10 = Khan | doi = 10.1016/j.neuron.2004.10.023 | first10 = N. | last11 = Johnson | first11 = J. | last12 = Martinez | first12 = J. R. | last13 = Nicholl | first13 = D. | last14 = Carrera | first14 = I. M. | last15 = Pena | first15 = A. S. N. | last16 = De Silva | first16 = R. | last17 = Lees | first17 = A. | last18 = Martí-Massó | first18 = J. F. L. | last19 = Pérez-Tur | first19 = J. | last20 = Wood | first20 = N. W. | last21 = Singleton | first21 = A. B. | title = Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease | journal = Neuron | volume = 44 | issue = 4 | pages = 595–600 | year = 2004 | pmid = 15541308 | pmc = }}

COR domain mutation analysis for LRRK2.{{Cite journal | last1 = Daniëls | first1 = V. | last2 = Vancraenenbroeck | first2 = R. E. | last3 = Law | first3 = B. M. H. | last4 = Greggio | first4 = E. | last5 = Lobbestael | first5 = E. | last6 = Gao | first6 = F. | last7 = De Maeyer | first7 = M. | last8 = Cookson | first8 = M. R. | last9 = Harvey | first9 = K. | last10 = Baekelandt | doi = 10.1111/j.1471-4159.2010.07105.x | first10 = V. | last11 = Taymans | first11 = J. M. | title = Insight into the mode of action of the LRRK2 Y1699C pathogenic mutant | journal = Journal of Neurochemistry | volume = 116 | issue = 2 | pages = 304–315 | year = 2011 | pmid = 21073465 | pmc =3005098 }}

LRRK2 dimerization {{Cite journal | last1 = Civiero | first1 = L. | last2 = Vancraenenbroeck | first2 = R. E. | last3 = Belluzzi | first3 = E. | last4 = Beilina | first4 = A. | last5 = Lobbestael | first5 = E. | last6 = Reyniers | first6 = L. | last7 = Gao | first7 = F. | last8 = Micetic | first8 = I. | last9 = De Maeyer | first9 = M. | last10 = Bubacco | first10 = L. | last11 = Baekelandt | first11 = V. | last12 = Cookson | first12 = M. R. | last13 = Greggio | first13 = E. | last14 = Taymans | first14 = J. M. | editor1-last = Yue | editor1-first = Zhenyu | title = Biochemical Characterization of Highly Purified Leucine-Rich Repeat Kinases 1 and 2 Demonstrates Formation of Homodimers | doi = 10.1371/journal.pone.0043472 | journal = PLoS ONE | volume = 7 | issue = 8 | pages = e43472 | year = 2012 | pmid = 22952686 | pmc =3430690 }}

References

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Databases

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