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Differential Coupling of Smooth and Skeletal Muscle Pyruvate Kinase to Creatine Kinase

Sears, Patrick R. ; Dillon, Patrick F.

American Chemical Society (ACS) ; 1999

In: Biochemistry Vol. 38, No. 45 ( 1999-11-01), p. 14881-14886

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In: Biochemistry, American Chemical Society (ACS), Vol. 38, No. 45 ( 1999-11-01), p. 14881-14886

Type of Medium: Online Resource

ISSN: 0006-2960 , 1520-4995

URL: Article

DOI: 10.1021/bi991076e

RVK:

WA 15000

Language: English

Publisher: American Chemical Society (ACS)

Publication Date: 1999

detail.hit.zdb_id: 1472258-6

SSG: 12

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Capillary electrophoretic measurement of tissue metabolites

Dillon, Patrick F. ; Sears, Patrick R.

American Physiological Society ; 1998

In: American Journal of Physiology-Cell Physiology Vol. 274, No. 3 ( 1998-03-01), p. C840-C845

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In: American Journal of Physiology-Cell Physiology, American Physiological Society, Vol. 274, No. 3 ( 1998-03-01), p. C840-C845

Abstract: A method for the measurement of tissue metabolites from rabbit urinary bladder using capillary electrophoresis (CE) has been developed. The method generates a reproducible electropherogram containing 〉 20 peaks, including NAD, NADH, lactate, UDP-glucose, phosphocreatine, creatine, ATP, ADP, GTP, and UTP, from 〈 20 nl of extract solution generated from 1.1 nl (or ∼1.2 μg) of tissue in 〈 40 min. Multiple samples from the same bladder produce SE comparable with enzymatic or nuclear magnetic resonance (NMR) measurements of metabolites: phosphorus-NMR measurement requires 10 6 more tissue than CE; individual enzymatic measurements using 100 μl/sample require 2,000 μl, a 10 5 greater volume than required by CE for the same number of metabolites. CE detects about three times more peaks than phosphorus-NMR on a similar time scale. Comparable measurements using enzymatic analysis would require ∼10 times longer. The combination of minimal tissue volume requirements, rapid measurement, and reproducibility makes CE a valuable tool in the investigation of simultaneous changes in multiple metabolites from minute tissue samples.

Type of Medium: Online Resource

ISSN: 0363-6143 , 1522-1563

URL: Article

DOI: 10.1152/ajpcell.1998.274.3.C840

Language: English

Publisher: American Physiological Society

Publication Date: 1998

detail.hit.zdb_id: 1477334-X

SSG: 12

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A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

Chivukula, Raghu R. ; Montoro, Daniel T. ; Leung, Hui Min ; [et al.]

Springer Science and Business Media LLC ; 2020

In: Nature Medicine Vol. 26, No. 2 ( 2020-02-01), p. 244-251

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In: Nature Medicine, Springer Science and Business Media LLC, Vol. 26, No. 2 ( 2020-02-01), p. 244-251

Type of Medium: Online Resource

ISSN: 1078-8956 , 1546-170X

URL: Article

DOI: 10.1038/s41591-019-0730-x

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2020

detail.hit.zdb_id: 1484517-9

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Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

Chivukula, Raghu R. ; Montoro, Daniel T. ; Leung, Hui Min ; [et al.]

Springer Science and Business Media LLC ; 2020

In: Nature Medicine Vol. 26, No. 2 ( 2020-02), p. 300-300

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In: Nature Medicine, Springer Science and Business Media LLC, Vol. 26, No. 2 ( 2020-02), p. 300-300

Type of Medium: Online Resource

ISSN: 1078-8956 , 1546-170X

URL: Article

DOI: 10.1038/s41591-020-0773-z

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2020

detail.hit.zdb_id: 1484517-9

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Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance

Bustamante-Marin, Ximena M. ; Yin, Wei-Ning ; Sears, Patrick R. ; [et al.]

Elsevier BV ; 2019

In: The American Journal of Human Genetics Vol. 104, No. 2 ( 2019-02), p. 229-245

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 104, No. 2 ( 2019-02), p. 229-245

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2018.12.009

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2019

detail.hit.zdb_id: 1473813-2

SSG: 12

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Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

Knowles, Michael R. ; Ostrowski, Lawrence E. ; Leigh, Margaret W. ; [et al.]

American Thoracic Society ; 2014

In: American Journal of Respiratory and Critical Care Medicine Vol. 189, No. 6 ( 2014-03-15), p. 707-717

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In: American Journal of Respiratory and Critical Care Medicine, American Thoracic Society, Vol. 189, No. 6 ( 2014-03-15), p. 707-717

Type of Medium: Online Resource

ISSN: 1073-449X , 1535-4970

URL: Article

DOI: 10.1164/rccm.201311-2047OC

RVK:

XA 21200

Language: English

Publisher: American Thoracic Society

Publication Date: 2014

detail.hit.zdb_id: 1468352-0

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Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype

Ostrowski, Lawrence E. ; Yin, Weining ; Smith, Amanda J. ; [et al.]

MDPI AG ; 2022

In: International Journal of Molecular Sciences Vol. 23, No. 3 ( 2022-02-03), p. 1753-

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In: International Journal of Molecular Sciences, MDPI AG, Vol. 23, No. 3 ( 2022-02-03), p. 1753-

Abstract: Primary ciliary dyskinesia (PCD) is a rare lung disease caused by mutations that impair the function of motile cilia, resulting in chronic upper and lower respiratory disease, reduced fertility, and a high prevalence of situs abnormalities. The disease is genetically and phenotypically heterogeneous, with causative mutations in 〉 50 genes identified, and clinical phenotypes ranging from mild to severe. Absence of ODAD1 (CCDC114), a component of the outer dynein arm docking complex, results in a failure to assemble outer dynein arms (ODAs), mostly immotile cilia, and a typical PCD phenotype. We identified a female (now 34 years old) with an unusually mild clinical phenotype who has a homozygous non-canonical splice mutation (c.1502+5G 〉 A) in ODAD1. To investigate the mechanism for the unusual phenotype, we performed molecular and functional studies of cultured nasal epithelial cells. We demonstrate that this splice mutation results in the expression of a truncated protein that is attached to the axoneme, indicating that the mutant protein retains partial function. This allows for the assembly of some ODAs and a significant level of ciliary activity that may result in the atypically mild clinical phenotype. The results also suggest that partial restoration of ciliary function by therapeutic agents could lead to significant improvement of disease symptoms.

Type of Medium: Online Resource

ISSN: 1422-0067

URL: Article

DOI: 10.3390/ijms23031753

Language: English

Publisher: MDPI AG

Publication Date: 2022

detail.hit.zdb_id: 2019364-6

SSG: 12

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Structural insights into the cause of human RSPH4A primary ciliary dyskinesia

Zhao, Yanhe ; Pinskey, Justine ; Lin, Jianfeng ; [et al.]

American Society for Cell Biology (ASCB) ; 2021

In: Molecular Biology of the Cell Vol. 32, No. 12 ( 2021-06-01), p. 1202-1209

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In: Molecular Biology of the Cell, American Society for Cell Biology (ASCB), Vol. 32, No. 12 ( 2021-06-01), p. 1202-1209

Abstract: Cilia and flagella are evolutionarily conserved eukaryotic organelles involved in cell motility and signaling. In humans, mutations in Radial Spoke Head Component 4A ( RSPH4A) can lead to primary ciliary dyskinesia (PCD), a life-shortening disease characterized by chronic respiratory tract infections, abnormal organ positioning, and infertility. Despite its importance for human health, the location of RSPH4A in human cilia has not been resolved, and the structural basis of RSPH4A –/– PCD remains elusive. Here, we present the native three-dimensional structure of RSPH4A –/– human respiratory cilia using samples collected noninvasively from a PCD patient. Using cryo–electron tomography (cryo-ET) and subtomogram averaging, we compared the structures of control and RSPH4A –/– cilia, revealing primary defects in two of the three radial spokes (RSs) within the axonemal repeat and secondary (heterogeneous) defects in the central pair complex. Similar to RSPH1 –/– cilia, the radial spoke heads of RS1 and RS2, but not RS3, were missing in RSPH4A –/– cilia. However, RSPH4A –/– cilia also exhibited defects within the arch domains adjacent to the RS1 and RS2 heads, which were not observed with RSPH1 loss. Our results provide insight into the underlying structural basis for RSPH4A –/– PCD and highlight the benefits of applying cryo-ET directly to patient samples for molecular structure determination.

Type of Medium: Online Resource

ISSN: 1059-1524 , 1939-4586

URL: Article

DOI: 10.1091/mbc.E20-12-0806

Language: English

Publisher: American Society for Cell Biology (ASCB)

Publication Date: 2021

detail.hit.zdb_id: 1474922-1

SSG: 12

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Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia

Bustamante-Marin, Ximena M. ; Horani, Amjad ; Stoyanova, Mihaela ; [et al.]

Public Library of Science (PLoS) ; 2020

In: PLOS Genetics Vol. 16, No. 8 ( 2020-8-7), p. e1008691-

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In: PLOS Genetics, Public Library of Science (PLoS), Vol. 16, No. 8 ( 2020-8-7), p. e1008691-

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1008691

DOI: 10.1371/journal.pgen.1008691.g001

DOI: 10.1371/journal.pgen.1008691.g002

DOI: 10.1371/journal.pgen.1008691.g003

DOI: 10.1371/journal.pgen.1008691.g004

DOI: 10.1371/journal.pgen.1008691.g005

DOI: 10.1371/journal.pgen.1008691.t001

DOI: 10.1371/journal.pgen.1008691.t002

DOI: 10.1371/journal.pgen.1008691.s001

DOI: 10.1371/journal.pgen.1008691.s002

DOI: 10.1371/journal.pgen.1008691.s003

DOI: 10.1371/journal.pgen.1008691.s004

DOI: 10.1371/journal.pgen.1008691.s005

DOI: 10.1371/journal.pgen.1008691.s006

DOI: 10.1371/journal.pgen.1008691.s007

DOI: 10.1371/journal.pgen.1008691.s008

DOI: 10.1371/journal.pgen.1008691.s009

DOI: 10.1371/journal.pgen.1008691.s010

DOI: 10.1371/journal.pgen.1008691.s011

DOI: 10.1371/journal.pgen.1008691.s012

DOI: 10.1371/journal.pgen.1008691.s013

DOI: 10.1371/journal.pgen.1008691.s014

DOI: 10.1371/journal.pgen.1008691.s015

DOI: 10.1371/journal.pgen.1008691.s016

DOI: 10.1371/journal.pgen.1008691.s017

DOI: 10.1371/journal.pgen.1008691.s018

DOI: 10.1371/journal.pgen.1008691.s019

DOI: 10.1371/journal.pgen.1008691.s020

DOI: 10.1371/journal.pgen.1008691.s021

DOI: 10.1371/journal.pgen.1008691.s022

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2020

detail.hit.zdb_id: 2186725-2

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Sperm-Associated Antigen 6 (SPAG6) Deficiency and Defects in Ciliogenesis and Cilia Function: Polarity, Density, and Beat

Teves, Maria E. ; Sears, Patrick R. ; Li, Wei ; [et al.]

Public Library of Science (PLoS) ; 2014

In: PLoS ONE Vol. 9, No. 10 ( 2014-10-21), p. e107271-

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In: PLoS ONE, Public Library of Science (PLoS), Vol. 9, No. 10 ( 2014-10-21), p. e107271-

Type of Medium: Online Resource

ISSN: 1932-6203

URL: Article

DOI: 10.1371/journal.pone.0107271

DOI: 10.1371/journal.pone.0107271.g001

DOI: 10.1371/journal.pone.0107271.g002

DOI: 10.1371/journal.pone.0107271.g003

DOI: 10.1371/journal.pone.0107271.g004

DOI: 10.1371/journal.pone.0107271.g005

DOI: 10.1371/journal.pone.0107271.g006

DOI: 10.1371/journal.pone.0107271.g007

DOI: 10.1371/journal.pone.0107271.s001

DOI: 10.1371/journal.pone.0107271.s002

DOI: 10.1371/journal.pone.0107271.s003

DOI: 10.1371/journal.pone.0107271.s004

DOI: 10.1371/journal.pone.0107271.s005

DOI: 10.1371/journal.pone.0107271.s006

DOI: 10.1371/journal.pone.0107271.s007

DOI: 10.1371/journal.pone.0107271.s008

DOI: 10.1371/journal.pone.0107271.s009

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2014

detail.hit.zdb_id: 2267670-3

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