ライフサイエンスコーパス: HSP

1 HSP cases maintained the ability to walk independently f

2 HSP is a neurodegenerative disease characterized by prog

3 HSP-17 is an abundant protein exhibiting opposing chaper

4 We instructed 12 HSP patients and 12 matched controls to respond as rapid

5 ression of the antiapoptotic proteins Bcl-2, HSP-70, LIVIN, and PON2 with downregulation of apoptosis

6 Of these, 26 HSP unigenes had >log2-fold up-regulation.

7 rotein (BiP) homologue Heat-Shock Protein 4 (HSP-4), is selectively induced in alae-secreting daughte

8 outgrowth and branching were reduced in AP-4-HSP neurons pointing to a role of AP-4-mediated protein

9 od-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SP

10 cluding the first human neuron model of AP-4-HSP, which will aid diagnostic and therapeutic studies.

11 We recruited 608 HSP cases from 519 families of mostly German origin.

12 ced the expression of heat-shock protein 70 (HSP-70) and heme oxygenase 1 (HO-1) and promoted cell su

13 tion with alpha- and beta-tubulin and HSP-70/HSP-90.

14 ulin, heat shock proteins 70 and 90 (HSP-70; HSP-90), and the carbamoyl phosphate synthetase 2/aspart

15 amma-tubulin, heat shock proteins 70 and 90 (HSP-70; HSP-90), and the carbamoyl phosphate synthetase

16 With similarly striking kinetics, activated HSP genes, both chromosomally linked and unlinked, coale

17 e in half of the autosomal dominant HSPs (AD-HSPs).

18 Exogenously administered HSPs can elicit a variety of immune responses that have

19 Thus, the deletion of CD24 in an HSP-driven model of autoimmunity led to the unexpected d

20 Consistent with an HSP relay, co-chaperones (e.g. HSC70-HSP90-organizing pr

21 um, predicted to target nematode CYP-450 and HSP-90 respectively, were prioritized for in vivo evalua

22 ludes activation of the chaperones HSP-6 and HSP-60.

23 d axonal degeneration reminiscent of CMT and HSP.

24 We demonstrate that CMT2 and HSP disease proteins are significantly more connected th

25 In particular, we observe that the CMT2 and HSP proto-modules significantly overlapped, demonstratin

26 cium, disrupts interactions between HER2 and HSP-90, inhibits HER2 signaling, and results in internal

27 nal transduction and a mechanism for HSF and HSP activation.

28 y of the pre-initiation complexes on LSP and HSP brings these transcription units in close proximity,

29 pitation, immunofluorescence microscopy, and HSP knockout using small hairpin RNA and inhibitors (apo

30 , while correcting behavioral, synaptic, and HSP deficits.

31 interaction with alpha- and beta-tubulin and HSP-70/HSP-90.

32 Our findings indicate that eEF2K and HSPs closely cooperate to maintain proper proteostasis a

33 mmatory effect of prozumab, a humanized anti-HSP mAb in murine inflammatory arthritis and colitis, an

34 are the primary drivers of SPG3A-associated HSP.

35 sly, we determined the Staphylococcus aureus HSP ClpC temporally alters bacterial metabolism and pers

36 ed no differences in onset latencies between HSP patients and controls.

37 revealed an overlapping relationship between HSP and hereditary ataxia and between CMT2 + HSP and her

38 tubular (HK-2) cells, which was abolished by HSP-70 or HO-1 siRNA.

39 highly conserved stress response mediated by HSPs could underlie susceptibility to metabolic disease

40 HS in response to Glc is largely mediated by HSPs, but the mechanistic basis of this thermotolerance

41 involving TLR4 and classic cardioprotective HSPs.

42 egeneration, and mutations in ATL1 may cause HSP, partly by undermining SOCE.

43 escued by overexpression of the ER chaperone HSP-4 (a homolog of mammalian BiP/grp78).

44 e that includes activation of the chaperones HSP-6 and HSP-60.

45 HSP and hereditary ataxia and between CMT2 + HSP and hereditary ataxia.

46 1 induced the production of type I collagen, HSP-47, FN, and periostin.

47 ve lipid accumulation in neurons and complex HSP syndrome.

48 are a causative basis for recessive complex HSP.

49 damage in patients with pure and complicated HSP suggests that the "primary" corticospinal tract invo

50 lues, .001-.05) in both pure and complicated HSP.

51 ial memory deficits, not only in complicated HSP but also in pure HSP.

52 This posits that cytosolic HSP proteins are sequentially recruited to folding inter

53 phagy as a possible defect in AP-4-deficient HSP.

54 Accordingly, tumor-derived HSPs are in clinical trials for cancer immunotherapy.

55 elicited by spastin proteins with different HSP mutations, independent of microtubule-binding or sev

56 ing to the affected gene and differentiating HSP from other genetic diseases associated with spastici

57 y expands the genetics of autosomal dominant HSP and is the first, to our knowledge, to link mutation

58 ily with pure adult-onset autosomal dominant HSP of unknown genetic origin were included.

59 at is also mutated in the autosomal dominant HSP SPG17 (Silver syndrome).

60 the cause in half of the autosomal dominant HSPs (AD-HSPs).

61 y, curcumin reduced soluble Tau and elevated HSPs involved in Tau clearance, showing that even after

62 repair of damage (e.g., antioxidant enzymes, HSPs), were uniquely more abundant in response to increa

63 ering of microtubules does not fully explain HSP-SPG4.

64 Negative feedback HSP, also known as synaptic scaling, maintains the globa

65 ate development of therapeutic compounds for HSP and other neurodegenerative diseases.

66 essential for severing and is a hotspot for HSP mutations.

67 a key contributor, but is not required, for HSP causation.

68 ith LTP, there is no subunit requirement for HSP.

69 en suggested to be the requisite subunit for HSP-induced AMPAR insertion and acute treatment with sig

70 urons, providing a potential drug target for HSP treatment.

71 Treatments for HSP and other neurodegenerative diseases are mainly symp

72 c paraplegia type 4 (SPG4, the most frequent HSP subtype) as an exemplar, we here present three rapid

73 Apart from HSPs, TOR-E2Fa also regulates the Arabidopsis (Arabidops

74 Our studies illustrate how HSPs act to alert the immune system of cellular damage a

75 -43 can be reduced by the activation of HSF1/HSP pathways presents an exciting opportunity for the de

76 stimulatory action of ethanol and identifies HSP-16.48 and HSF-1 as novel regulators of this pathway.

77 SP expression levels could negatively impact HSP chaperone capacity or their participation in the cel

78 The identification of a molecular deficit in HSP in Mecp2 KO neurons provides potentially novel targe

79 This deficit in HSP is bidirectional because Mecp2 KO neurons also faile

80 on is thought to be a predominant feature in HSP, the role of REEP1 mutations in degeneration is larg

81 These delayed onsets in HSP were normalized when the imperative stimulus was com

82 LXR) agonist rescued all three phenotypes in HSP neurons, providing a potential drug target for HSP t

83 cking of AMPA-type of glutamate receptors in HSP, Mecp2 KO neurons have lower levels of early endosom

84 which may have translational significance in HSP-7 patients, both in terms of diagnostic/prognostic b

85 Delayed reaction times in HSP patients in trials both with and without a SAS would

86 rmal function of the reticulospinal tract in HSP.

87 ltered lipid-mediated signal transduction in HSP pathogenesis.

88 The reticulospinal tract seems unaffected in HSP patients, because startle reflex onsets were normal.

89 ilure in maintaining health of long axons in HSPs.

90 ways that have been previously implicated in HSPs, and UBAP1 provides a bridge toward a more unified

91 y the mechanisms of progressive axon loss in HSPs and other disorders.

92 er-representation in 13 Pfam terms including HSP, ALDH and ubiquitin families in Dalbergia.

93 modulate protein-handling systems including HSPs and autophagy, thereby reducing the aggregation and

94 nergy MWA and RFA also resulted in increased HSP 70 expression and macrophages in the periablational

95 elevated HSP90 and HSC70 without increasing HSP mRNAs; that is, without induction of the heat shock

96 f the pathophysiological basis of individual HSP subtypes there are emerging opportunities to provide

97 ithout causing permanent damage would induce HSPs in the cochlea and inhibit ototoxic drug-induced he

98 subunit during chronic tetrodotoxin-induced HSP using hippocampal cultures derived from AMPAR subuni

99 loped a sound exposure protocol that induces HSPs without causing permanent hearing loss.

100 respond to stress by upregulating inducible HSPs, this response is relatively slow and is limited by

101 Glc-mediated thermotolerance involves HSP induction via the TARGET OF RAPAMYCIN (TOR)-E2Fa sig

102 longevity effect of tanespimycin through its HSP-90 target in Caenorhabditis elegans.

103 pathways highlighted by these mutations link HSP to cellular transport, nucleotide metabolism, and sy

104 Our analysis links HSP to other neurodegenerative disorders and can facilit

105 etes impairs the function/expression of many HSPs, including HSP70 and HSP90, key regulators of patho

106 lucidate the mechanism of the TNIP1-mediated HSP repression, we determined that TNIP1 likely represse

107 le-severing protein spastin account for most HSP cases.

108 rgeted after vaccination with native, murine HSPs, and we characterize those cells.

109 Mutated HSP proteins include myelin proteolipid protein (PLP) an

110 eter of Horse chestnut starch nanoparticles (HSP), Water chestnut starch nanoparticles (WSP) and Lotu

111 sses gene looping, yet neither crumpling nor HSP gene coalescence is affected.

112 plicating ion channel dysfunction as a novel HSP disease mechanism.

113 ppaB repressing factor (NKRF) as a nucleolar HSP essential for nucleolus homeostasis and cell surviva

114 We observed HSP in cultures from GluA1(-)/(-), GluA2(-)/(-), and Glu

115 l therapy, and intravenous administration of HSP targeted HPMA copolymer-docetaxel at 10mg/kg resulte

116 in gene (SPAST) are the most common cause of HSP and typically present with a pure form.

117 lysosome function links different classes of HSP proteins, previously considered functionally distinc

118 ng factors, with relevance for counseling of HSP families and planning of future cross-sectional and

119 n HSP90 inhibitor that causes degradation of HSP chaperones and their client proteins, including epid

120 mor hyperthermia to increase the delivery of HSP targeted macromolecular chemotherapeutics.

121 rate the de novo assembly and disassembly of HSP gene foci.

122 a tertiary referral center for evaluation of HSP for a decade until August 2014.

123 disease model driven by forced expression of HSP gp96 at the cell surface (transgenic mice [tm]).

124 upon the constitutive neuronal expression of HSP-16.48, a small heat shock protein (HSP) homolog of h

125 naling molecules that underlie some forms of HSP results in the preferential incorporation of GluA2-l

126 ic implications for the most common forms of HSP.

127 hermore we demonstrated that the function of HSP-16.48 in drug sensitivity surprisingly was independe

128 ter plating; axonal swellings, a hallmark of HSP pathology, was discernible after only 5 days.

129 hat identified tanespimycin, an inhibitor of HSP-90, as the top-ranked novel anti-ageing candidate.

130 ficiently isolate the complex interactome of HSP chaperone family proteins under normal and stress co

131 ect a difference in the level or kinetics of HSP expression between young and old mice in all brain r

132 Loss of HSP hairpin proteins causes ER sheet expansion, partial

133 Following cross-presentation of HSP-chaperoned peptides by CD91(+) antigen presenting ce

134 ch included upregulation of a broad range of HSP products.

135 se results suggest that TNIP1's reduction of HSP expression levels could negatively impact HSP chaper

136 d and was observed when partial reduction of HSP proteins was combined with expression of dominant-ne

137 ctively recruited to the promoter regions of HSP genes.

138 us to adult, but gait defects reminiscent of HSP (not observed in spastin knockout mice) were adult o

139 perone sti-1 upregulate the transcription of HSP-90.

140 ve a genetic diagnosis, and a global view of HSP is lacking.

141 ition of heme largely reversed the effect of HSPs on tumorigenic functions.

142 ed protein, apoptosis, and the expression of HSPs and antioxidants, while the viability of cells was

143 revealed upregulation of additional forms of HSPs and the downregulation of enzymes of the photosynth

144 expression increased arginine methylation of HSPs of 70 kDa (HSP70); this methylation enhanced HSP70

145 tance pathways and lead to overexpression of HSPs genes, involved in resistance to cancer and Alzheim

146 core motor phenotype and axonal pathology of HSPs are recapitulated in mice lacking the HSP-associate

147 These results indicate that regulation of HSPs may be through a yet unknown TNIP1-associated pathw

148 d sarcomere dynamics, marked upregulation of HSPs, and reduced myotube resilience following mechanica

149 expression of the alpha-crystallin ortholog HSP-16.48 Using a combination of pharmacology, optogenet

150 Hansen solubility parameters (HSP) were first calculated for the analytes and the extr

151 optimizing the Hansen solubility parameters (HSPs) of solvents for the growing polymer, and named the

152 ation, FAHN), hereditary spastic paraplegia (HSP type SPG35) and leukodystrophy (leukodystrophy with

153 nown to cause hereditary spastic paraplegia (HSP) and cerebellar ataxia.

154 otor neurons, hereditary spastic paraplegia (HSP) and distal hereditary motor neuropathy type V (dHMN

155 (AR) complex hereditary spastic paraplegia (HSP) and juvenile onset amyotrophic lateral sclerosis (A

156 mal recessive hereditary spastic paraplegia (HSP) caused by frameshift mutations in the SPG20 gene th

157 2 (CMT2) and Hereditary Spastic Paraplegia (HSP) depending on the affected neurons: peripheral motor

158 Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodeg

159 nant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origi

160 Complex hereditary spastic paraplegia (HSP) is a genetic disorder that causes lower limb spasti

161 Hereditary spastic paraplegia (HSP) is a neurological syndrome characterized by degener

162 in-1 found in Hereditary Spastic Paraplegia (HSP) patients show similar ER phenotypes, suggesting tha

163 omal dominant hereditary spastic paraplegia (HSP) type SPG8.

164 use a form of hereditary spastic paraplegia (HSP) with intellectual disability.

165 r REEP1 cause hereditary spastic paraplegia (HSP), a disease characterized by axonal degeneration.

166 es, including hereditary spastic paraplegia (HSP), a disorder characterized by spasticity in the lowe

167 inant form of hereditary spastic paraplegia (HSP), a motor-neurological disorder manifested by lower

168 orphology and hereditary spastic paraplegia (HSP), a neurodegenerative disease characterized by axon

169 s genes cause hereditary spastic paraplegia (HSP), a neurological disease involving dying-back degene

170 rted to cause hereditary spastic paraplegia (HSP), although their impact at the cellular level has no

171 sociated with hereditary spastic paraplegia (HSP), autosomal-recessive cerebellar ataxia (ARCA), and

172 ase (CMT) and Hereditary Spastic Paraplegia (HSP), but the mechanism of its involvement in the progre

173 In hereditary spastic paraplegia (HSP), the axons of cortical motor neurons degenerate and

174 stin, lead to hereditary spastic paraplegia (HSP).

175 ans with pure hereditary spastic paraplegia (HSP).

176 mmon cause of hereditary spastic paraplegia (HSP).

177 tive disease, hereditary spastic paraplegia (HSP).

178 mon cause of hereditary spastic paraplegias (HSP).

179 The hereditary spastic paraplegias (HSPs) are a rare and heterogeneous group of neurodegener

180 Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neuro

181 Hereditary spastic paraplegias (HSPs) are genetically driven disorders with the hallmark

182 The hereditary spastic paraplegias (HSPs) are heterogeneous neurodegenerative disorders with

183 Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases charac

184 mplicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to the widespre

185 ociated with hereditary spastic paraplegias (HSPs).

186 Hereditary spastic paraplegias (HSPs; SPG1-76 plus others) are length-dependent disorder

187 Engineered heme-sequestering peptides (HSP) reduced heme uptake, intracellular heme levels, and

188 of MeCP2 in homeostatic synaptic plasticity (HSP) at excitatory synapses.

189 Homeostatic synaptic plasticity (HSP) has been implicated in the development of hyperexci

190 Homeostatic synaptic plasticity (HSP) is an important form of negative feedback that prov

191 100,000 population) were the most prevalent HSPs.

192 nd promoter (LSP) and heavy strand promoter (HSP), located in the opposite DNA strands.

193 lin resistance inhibits vascular HS protein (HSP) 72 expression.

194 es can sustain HSF1 activity and HS protein (HSP) expression with age.

195 The molecular chaperone heat shock protein (HSP) 101 is a protein disaggregase that co-operates with

196 a drug that upregulates heat shock protein (HSP) 70 and HSP90.

197 Liver heat shock protein (HSP) 70 levels (at 72 hours) and macrophages (CD68 at 7

198 proteins CD63, CD81, and heat shock protein (HSP) 70.

199 Increased heat shock protein (HSP) 72 expression in skeletal muscle prevents obesity a

200 Levels of heat shock protein (HSP) and interleukin 15 were measured by immunohistochem

201 olic and organelle-based heat-shock protein (HSP) chaperones ensure proper folding and function of na

202 icroscopy to investigate Heat Shock Protein (HSP) gene conformation and 3D nuclear organization in bu

203 Our findings reveal that heat-shock protein (HSP) gene expression is suppressed during fasting in mou

204 sembly and expression of Heat Shock Protein (HSP) genes.

205 pression of cell surface heat shock protein (HSP) glucose regulated protein 78 kDa (GRP78) was utiliz

206 on of HSP-16.48, a small heat shock protein (HSP) homolog of human alpha-crystallin.

207 ell lymphoma (Bcl)-2 and heat shock protein (HSP)-70 expression.

208 dly up-regulate IDE in a heat shock protein (HSP)-like fashion.

209 ominant-negative form of heat shock protein (HSP)110 (HSP110DE9) expressed by cancer cells with MSI,

210 cobacterium tuberculosis heat shock protein (HSP)65 protect against the induction of murine autoimmun

211 Induction of heat shock protein (HSP)72 protects against obesity-induced insulin resistan

212 strates such as tubulin, heat shock protein (HSP)90, Foxp3, and cortactin, to name a few.

213 mphomas (B-NHLs) express heat shock protein (HSP)H1/105 in function of their aggressiveness.

214 on fractionation of the heat-stable protein (HSP) fraction revealed further differences in the partit

215 h factor beta [TGFbeta]; heat shock protein [HSP]-70; at-risk alcohol use; and Child class B) we coul

216 factors (HSF genes) and heat shock proteins (HSP genes) is reduced in heat-sensitive transgenic plant

217 he expression of heat shock family proteins (HSPs) and other antioxidants.

218 ecular patterns such as heat shock proteins (HSPs) and high-mobility group box 1.

219 er-expressed a range of heat shock proteins (HSPs) and identified DNAJB2a (encoded by DNAJB2, and als

220 m and distinct forms of heat shock proteins (HSPs) and proteins with chaperon functions while protein

221 Heat shock proteins (HSPs) are a large group of chaperones considered critica

222 Heat shock proteins (HSPs) are constitutively expressed in murine skin.

223 Heat shock proteins (HSPs) are induced by cellular stress and function as mol

224 hat expression level of Heat Shock Proteins (HSPs) can be used as a measurement of buffering levels,

225 Induction of heat shock proteins (HSPs) confers protection against aminoglycoside-induced

226 Select members of the heat shock proteins (HSPs) family, such as gp96, elicit immune responses spec

227 For more than 50 years, heat shock proteins (HSPs) have been studied for their role in protecting cel

228 Induction of heat shock proteins (HSPs) in response to heat stress (HS) is indispensable f

229 The induction of heat shock proteins (HSPs) inhibits both aminoglycoside- and cisplatin-induce

230 potentially protective heat shock proteins (HSPs) such as Hsp70 and Hsp27.

231 ly of proteins known as heat shock proteins (HSPs) to facilitate adaptation and survival.

232 rease the expression of heat shock proteins (HSPs) via a heat shock factor (HSF)-dependent mechanism.

233 group of genes encoding heat shock proteins (HSPs) was induced.

234 MRP-1 is chaperoned by heat shock proteins (HSPs) was investigated by immunoprecipitation, immunoflu

235 ation of genes encoding heat shock proteins (HSPs), a family of chaperones that refold or degrade mis

236 A number of Heat Shock Proteins (HSPs), in the extracellular environment, are immunogenic

237 ssion of cytoprotective heat shock proteins (HSPs), molecular chaperones/cochaperones constituting a

238 Induction of heat-shock proteins (HSPs), such as through activated heat shock transcriptio

239 Heat shock proteins (HSPs), through regulation of extracellular matrix (ECM)

240 ress, plants synthesize heat shock proteins (HSPs), which are often molecular chaperones and are unde

241 not only in complicated HSP but also in pure HSP.

242 onally, 163 unrelated participants with pure HSP of unknown genetic cause were screened.

243 by the ATL1 gene known to be mutated in pure HSPs.

244 Here, we show that the putative HSP-90 co-chaperone CHP-1 acts as a regulator of EGFR tr

245 we identified 18 previously unknown putative HSP genes and validated nearly all of these genes functi

246 are the likely cause of autosomal recessive HSP in four unrelated families and functionally evaluate

247 s and expands the understanding of recessive HSPs.

248 underlying the pathogenesis of GBA2-related HSP and ARCA and reveal species-specific differences in

249 To study the pathogenesis of GBA2-related HSP and ARCA in vivo, we investigated GBA2-KO mice as a

250 otypic and genetic spectrum of SPAST-related HSP focused on 118 patients carrying SPAST mutations.

251 Promoter analyses of representative HSP genes suggested the involvement of hypoxia-inducible

252 n, we determined that TNIP1 likely represses HSPs through factors other than RAR, PPAR or NFkappaB de

253 Based on these results, HSP targeted DOC conjugates were selected for in vivo ev

254 te physically and are colocalized on several HSP promoters.

255 assays, we report that the noncanonical sHsp HSP-17 of Caenorhabditis elegans facilitates aggregation

256 n of airway remodelling including alpha-SMA, HSP-47, extracellular matrix (MMP7, 9 and TIMP-1), angio

257 disaggregase that co-operates with the small HSP (sHSP) and HSP70 chaperones to facilitate removal of

258 s associated with a destabilization of small HSPs as the result of a disrupted interaction between BA

259 its function in comparison to related small HSPs.

260 nts that most frequently identified in SPG3A HSP patients, displayed wild-type levels of activity in

261 In response to acute thermal stress, HSP genes undergo intense intragenic folding interaction

262 vitro Experiments with fluorescently tagged HSP-17 under the control of its endogenous promoter reve

263 During the ankle dorsiflexion task, HSP patients had an average 19 ms delay in reaction time

264 dominant and 3.3 for recessive ataxias) than HSP (prevalence, 4.1 per 100,000 population; 2.4 for dom

265 rol of its endogenous promoter revealed that HSP-17 is expressed in the digestive and excretory organ

266 tive microtubule regulators, suggesting that HSP proteins work with microtubules to promote regenerat

267 The HSP-4 induction is anticipatory and is required for the

268 cells of constructs of HIF1 subunits and the HSP promoter-driven reporter.

269 ient but expresses human spastin bearing the HSP pathogenic C448Y mutation.

270 ction in NK cells, which is important in the HSP anti-tumor immune response, and leaves their cytotox

271 udy suggests that age-related changes in the HSP mechanisms are sufficient to explain the difference

272 group of secreted chaperone proteins in the HSP-90 family that contained the amino acid sequence DDD

273 f HSPs are recapitulated in mice lacking the HSP-associated gene Reep1.

274 t domain within the N-terminal region of the HSP-16.48 protein that specified its function in compari

275 We propose that the HSP proteins spastin and atlastin promote axon regenerat

276 Finally, we show that the HSP-90 cochaperone spaghetti protein (SPAG) antagonizes

277 ssion of most of the 21 HSFs and some of the HSPs in the mutant plants.

278 Therefore HSP hairpin-containing proteins are required for shaping

279 ranscription initiation factor TFAM binds to HSP and LSP in opposite directions, implying that the me

280 st axonal transport (FAT), may contribute to HSP pathogenesis.

281 g that neuronal ER impairment contributes to HSP disease pathogenesis.

282 nt for how SPG8-associated mutations lead to HSP.

283 ctivation domains, recruits holo-Mediator to HSP promoters in response to acute heat stress through c

284 n contrast, we found that binding of TFAM to HSP and the subsequent recruitment of mtRNAP results in

285 ecently, several roles have been ascribed to HSPs in the immune system.

286 s demonstrate that NKRF is an unconventional HSP crucial for correct ribosomal RNA (rRNA) processing

287 with a gain-of-function mechanism underlying HSP, with spastin haploinsufficiency exacerbating the to

288 ation was similarly impaired in neurons when HSP proteins atlastin, seipin, and spichthyin were reduc

289 and gluconeogenesis-related processes, while HSP-specific pathways include processes involved in vira

290 al recessive AP-4 deficiency associated with HSP and mycobacterial disease, suggesting that AP-4 may

291 Next, Reep1 mutations associated with HSP were functionally tested in neuritic growth and dege

292 ttenuating within 30 min, and correlate with HSP gene transcriptional activity.

293 tudy is a systematic review of families with HSP resulting from a population-based survey.

294 nnel, KV 1.2, in two unrelated families with HSP, intellectual disability (ID), and ataxia.

295 hree mutations in REEP2 in two families with HSP: a missense variant (c.107T>A [p.Val36Glu]) that seg

296 ve degeneration mainly occurs in humans with HSP-SPG4.

297 Forty-four patients with HSP (20 genetically defined cases and 24 without genetic

298 nd cervical cord (P < .001) in patients with HSP relative to healthy control subjects, regardless of

299 ical and cognitive features of patients with HSP who had brain and cervical cord damage were also inv

300 mily and screen the additional patients with HSP.

301 inding of HSF1 to heat shock elements within HSP gene promoters.