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Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
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Basal bodies and DNA

Trends in Cell Biology, 1991
The possibility that basal bodies/centrioles contain nucleic acid has been a controversial topic in cell biology for several decades. These structures are conservatively replicated, are segregated at mitosis, and play a prominent role in cytoskeletal organization; thus, some have chosen to view centrioles as autonomous, self-replicating entities, and ...
Joel L. Rosenbaum, Karl A. Johnson
openaire   +3 more sources

Basal body temperature and endometriosis

Fertility and Sterility, 1990
This investigation examined the association between pelvic endometriosis and altered basal body temperature (BBT). The study population consisted of infertile women who have been diagnosed as having endometriosis. A significant association was found between the presence of pelvic endometriosis (without previous treatment) and the appearance of a late ...
Sungji Chai, Robert A. Wild, Robert A. Wild   +2 more
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Basal Body Homeostasis in Tetrahymena

The American Naturalist, 1974
The number of basal bodies in a ciliary row of Tetrahymena pyriformis decreases as the number of ciliary rows increases so as to maintain an approximately constant total number of basal bodies per cell. This observation, previously established for syngen 1, is here extended to 21 additional strains representing the other 11 established syngens. Strains
Margaret Chow, David L. Nanney
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An updated basal body temperature method

Contraception, 1996
Basal body temperature (BBT) readings are handicapped as fertility predictors by exogenous influences on women's temperatures, many of which could be adjusted for by the presence of a non-cycling control. We, a married, cohabiting couple, tracked our BBTs for two months. We found substantial temperature covariability.
Erica Frank, Randall F White
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ATPase of basal bodies ofTetrahymena pyriformis

Journal of Muscle Research and Cell Motility, 1987
The Ca2+-ATPase activity in basal bodies of Tetrahymena pyriformis was determined by cytochemical and biochemical methods. It was found that the sites of the Ca2+-ATPase activity are associated with the basal body microtubules. A method for the isolation of the basal bodies in a purified form in amounts for biochemical assay has been developed.
S. A. Burnasheva, F. S. Fain
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Basal body/centriole assembly and continuity

Current Opinion in Cell Biology, 2003
The long-standing interest in centrioles and basal bodies stems from the evolutionary conservation of their structural design and from their dual mode of assembly (templated versus de novo), revealed by electron microscopic studies nearly four decades ago and unique for a subcellular organelle.
Janine Beisson, Michel Wright
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Characteristics of Basal Body Cartwheel Reassembly

The Journal of Protozoology, 1989
ABSTRACT. Cartwheel complexes reassembled in a fraction derived by treating isolated oral apparatuses from Tetrahymena with 1.0 M KC1 for 12 h. Approximately 40% of the KCl‐soluble protein reassembled into cartwheel complexes. The reassembly reaction was protein‐concentration dependent, and reassembled cartwheels were stable at 3° C.
W. A. Duffus, R. H. Gavin, P. C. Contard
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Chapter 45 Purification of Basal Bodies and Basal Body Complexes from Chlamydomonas reinhardtii

1995
Publisher Summary The microtubule organizing center (MTOC) in Chlamydomonas is defined as the pair of basal bodies, the rootlet microtubules, the distal and proximal striated fibers, and the nucleobasal body connectors (NBBCs). In Chlamydomonas , three different protocols can be used to obtain isolated basal body complexes.
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